Podcasts about cdkl5

Si quieren aprender más sobre las epilepsias genéticas y en particular del síndrome CDKL5, no se pueden perder este episodio de Mas Que Raras. La Dra. Elia Pestana, quien actualmente trabaja en el Cleveland Clinic Neurological Institute, nos lleva desde sus inicios en la Havana, Cuba hasta los Estados Unidos. Como su historia personal la llevo a querer cuidar de otros. Su pasión, su admiración y su dedicación por las familias cuyos hijos padecen epilepsias genéticas así como su deseo de enseñar a la próxima generación de médicos es realmente contagioso. ¡Los invitamos a escucharla!   Más información:  Cleveland Clinic https://my.clevelandclinic.org/staff/17816-elia-pestana-knight Show Notes: Subscribe: Mas Que Raras Podcast   Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on Twitter    

CDKL5 deficiency disorder (CDD) is a serious and rare, genetic condition characterized by early onset and difficult to control seizures, as well as severe neuro developmental impairment. Last year, the U.S. Food and Drug Administration approved Marinus Pharmaceuticals Ztalmy to treat seizures associated with CDD, the first FDA approved therapy for the condition. Marinus is seeking to expand the use of Ztalmy in other seizure disorders including tuberous sclerosis complex and Lennox-Gastaut syndrome. We spoke to Alex Aimetti, chief scientific officer of Marinus, about Ztalmy, how it works, and the efforts to expand its use to other seizure disorders.

When Brynn Ladley was born, she was a smiling, happy and healthy baby, hitting all of her developmental milestones. Then, at six weeks old, she began having seizures and eventually was diagnosed with CDKL5, a rare and debilitating genetic disorder that has no cure. Upon Brynn's diagnosis, her mother Natalie became an advocate and connected with Dr. James Eubanks, a Senior Scientist at the Krembil Brain Institute, who has made it his life's mission to pioneer advanced research looking at how brain function is altered in specific rare, neurodevelopmental conditions, such as CDKL5 and Rett SyndromeHe is also developing new therapeutic strategies to better treat, or one day even cure, these diseases. We'll also hear from Brynn's mother Natalie and from Richard Logan, Dr. Eubanks' long-time lab manager, who are optimistic about advances in this research, in the years to come.Featuring: Dr. James Eubanks – Senior Scientist and Research Division Head at the Krembil Brain Institute, part of UHN.Natalie Ladly – President of CDKL5 Canada and mother to seven year-old Brynn Ladly, who is living with CDKL5.Richard Logan - Lab manager and senior technologist for Dr. Eubanks' lab at the Krembil Brain Institute.Additional resources: CDKL5 CanadaOntario Rett Syndrome AssociationKrembil Brain Institute magazine article featuring Dr. EubanksUHN Foundation's ‘Know Your Heroes' article featuring Dr. EubanksCollingwood Today article about Bryn Ladley & her familyCanadian Organization for Rare Disorders The Krembil Brain Institute, part of University Health Network, in Toronto, is home to one of the world's largest and most comprehensive teams of physicians and scientists uniquely working hand-in-hand to prevent and confront problems of the brain and spine, such as Parkinson's, Alzheimer's, epilepsy, stroke, spinal cord injury, chronic pain, brain cancer or concussion, in their lifetime. Through state-of-the-art patient care and advanced research, we are working relentlessly toward finding new treatments and cures.Do you want to know more about the Krembil Brain Institute at UHN? Visit us at: uhn.ca/krembilTo get in touch, email us at krembil@uhnresearch.ca or message us on social media:Instagram - @krembilresearchTwitter - @KBI_UHNFacebook - https://www.facebook.com/KrembilBrainInstituteThanks for listening!

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.04.24.538049v1?rss=1 Authors: Castano, A., Silvestre, M., Wells, C. I., Sanderson, J. L., Ferrer, C. A., Ong, H. W., Lang, Y., Richardson, W., Silvaroli, J. A., Bashore, F. M., Smith, J. L., Genereux, I. M., Dempster, K., Drewry, D. H., Pabla, N. S., Bullock, A. N., Benke, T. A., Ultanir, S., Axtman, A. D. Abstract: Pathological loss-of-function mutations in cyclin-dependent kinase-like 5 (CDKL5) cause CDKL5 deficiency disorder (CDD), a rare and severe neurodevelopmental disorder associated with severe and medically refractory early-life epilepsy, motor, cognitive, visual and autonomic disturbances in the absence of any structural brain pathology. Analysis of genetic variants in CDD have indicated that CDKL5 kinase function is central to disease pathology. CDKL5 encodes a serine-threonine kinase with significant homology to GSK3b, which has also been linked to synaptic function. Further, Cdkl5 knock-out rodents have increased GSK3b activity and often increased long-term potentiation (LTP). Thus, development of a specific CDKL5 inhibitor must be careful to exclude cross-talk with GSK3b activity. We synthesized and characterized specific, high-affinity inhibitors of CDKL5 that do not have detectable activity for GSK3b. These compounds are very soluble in water but blood-brain barrier penetration is low. In rat hippocampal brain slices, acute inhibition of CDKL5 selectively reduces post-synaptic function of AMPA-type glutamate receptors in a dose-dependent manner. Acute inhibition of CDKL5 reduces hippocampal LTP. These studies provide new tools and insights into the role of CDKL5 as a newly appreciated, key kinase necessary for synaptic plasticity. Comparisons to rodent knock-out studies suggest that compensatory changes have limited the understanding of the roles of CDKL5 in synaptic physiology, plasticity and human neuropathology. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.02.09.527935v1?rss=1 Authors: Ong, H. W., Liang, Y., Richardson, W., Lowry, E. R., Wells, C. I., Chen, X., Silvestre, M., Dempster, K., Silvaroli, J. A., Smith, J. L., Wichterle, H., Pabla, N. S., Ultanir, S. K., Bullock, A. N., Drewry, D., Axtman, A. D. Abstract: Despite mediating several essential processes in the brain, including during development, cyclin-dependent kinase-like 5 (CDKL5) remains a poorly characterized human protein kinase. Accordingly, its substrates, functions, and regulatory mechanisms have not been fully described. We realized that availability of a potent and selective small molecule probe targeting CDKL5 could enable illumination of its roles in normal development as well as in diseases where it has become aberrant due to mutation. We prepared analogs of AT-7519, a known inhibitor of several cyclin dependent and cyclin-dependent kinase-like kinases that has been advanced into Phase II clinical trials. We identified analog 2 as a highly potent and cell-active chemical probe for CDKL5/GSK3 (glycogen synthase kinase 3). Evaluation of its kinome-wide selectivity confirmed that analog 2 demonstrates excellent selectivity and only retains GSK3/{beta} affinity. As confirmation that our chemical probe is a high-quality tool to use in directed biological studies, we demonstrated inhibition of downstream CDKL5 and GSK3/{beta} signaling and solved a co-crystal structure of analog 2 bound to CDKL5. A structurally similar analog (4) proved to lack CDKL5 affinity and maintain potent and selective inhibition of GSK3/{beta}. Finally, we used our chemical probe pair (2 and 4) to demonstrate that inhibition of CDKL5 and/or GSK3/{beta} promotes the survival of human motor neurons exposed to endoplasmic reticulum (ER) stress. We have demonstrated a neuroprotective phenotype elicited by our chemical probe pair and exemplified the utility of our compounds to characterize the role of CDKL5/GSK3 in neurons and beyond. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

In this podcast episode, experts in Rett syndrome, David N. Lieberman, MD, PhD, and Jeffrey Neul, MD, PhD, provide a comprehensive overview of Rett syndrome (RTT), a rare but severe neurodevelopmental disorder. They begin with a discussion on the clinical characteristics and typical disease progression of RTT before diving into the various genetic markers and how they may, or may not, be used in the diagnosis and prognosis. Finally, the experts ponder the future of RTT diagnoses, touching upon how we might identify RTT and intervene earlier, potential utilization of biomarkers, and the role of measurement-based care.Presenters:David N. Lieberman MD, PhDInstructorDepartment of NeurologyHarvard Medical SchoolAttending PhysicianChild NeurologyBoston Children's HospitalBoston, MassachusettsJeffrey Neul MD, PhDDirectorPediatricsVanderbilt University Medical CenterNashville, TennesseeThis activity is supported by educational funding provided by Acadia Pharmaceuticals Inc.To claim CME/CE credit for this podcast, complete the posttest here:https://bit.ly/3WjtMjAFor additional activities in this program, visit:https://bit.ly/3kfAn0U

JR WEBINAR - MORE OF EVERYTHING - BOOK - Thursday January 17, 2023 - https://syngap.fund/jr - Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA. - Login/Signup for Rare-X https://syngap1.rare-x.org/ - Take the ORCA Ingo's CNS talk shows us what is possible with Ciitizen Data, other data. And how distinct SYNGAP1 is… Thread https://twitter.com/JMGraglia/status/1612978647107002368 Distinct https://twitter.com/JMGraglia/status/1612978675053658113 SYBGAP1 Poster https://twitter.com/JillianLMcKee/status/1600202742269501442 Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 All about Syndrome Management, let's get beyond seizures. https://twitter.com/CNSdrughunter/status/1612863006148366356 PRAX-222 is number 3. So exciting. To see ASOs go into the Brain. 1. Stoke with #SCN1A 2. Ultragenyx with Angelman Syndrome 3. Praxis with #SCN2A via #PRAX222 4. Who will 4 be? Will it be #CDKL5? #STXBP1? SYNGAP1? Very special Wednesday Warrior, please read - 19 year olds https://twitter.com/cureSYNGAP1/status/1613263197930422272 Ellen's Dx Journey - 40 year old https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 89 of #Syngap10 - January 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

JR's book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89   JR WEBINAR - MORE OF EVERYTHING - BOOK  - Thursday January 17, 2023 - https://syngap.fund/jr - Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA    ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA.  - Login/Signup for Rare-X https://syngap1.rare-x.org/  - Take the ORCA   Ingo's CNS talk shows us what is possible with Ciitizen Data, other data.  And how distinct SYNGAP1 is… Thread https://twitter.com/JMGraglia/status/1612978647107002368 Distinct https://twitter.com/JMGraglia/status/1612978675053658113 SYBGAP1 Poster https://twitter.com/JillianLMcKee/status/1600202742269501442    Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/   - Sign-UP https://ciitizen.com/syngap1    All about Syndrome Management, let's get beyond seizures. https://twitter.com/CNSdrughunter/status/1612863006148366356    PRAX-222 is number 3.  So exciting.  To see ASOs go into the Brain. Stoke with #SCN1A Ultragenyx with Angelman Syndrome Praxis with #SCN2A via #PRAX222 Who will 4 be?  Will it be #CDKL5?  #STXBP1? SYNGAP1?   Very special Wednesday Warrior, please read - 19 year olds https://twitter.com/cureSYNGAP1/status/1613263197930422272   Ellen's Dx Journey - 40 year old https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 89 of #Syngap10 - January 14,  2023  #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.11.24.517538v1?rss=1 Authors: Sampedro-Castaneda, M., Baltussen, L. L., Lopes, A. T., Qiu, Y., Sirvio, L., Mihaylov, S. R., Claxton, S., Richardson, J. C., Lignani, G., Ultanir, S. K. Abstract: Developmental and epileptic encephalopathies (DEEs) are a group of rare childhood disorders characterized by severe epilepsy and related cognitive deficits. Numerous DEE genes have been discovered thanks to advances in genomic diagnosis, yet putative molecular links between these disorders are not known. CDKL5 deficiency disorder (CDD, DEE2) is one of the most common forms of genetic epilepsy; it is caused by loss-of-function mutations in the brain-enriched kinase CDKL5. To elucidate CDKL5 function, we looked for CDKL5 substrates using a SILAC based phosphoproteomic screen. We identified the voltage-gated Ca2+ channel Cav2.3 (encoded by CACNA1E) as a novel physiological target of CDKL5 in mice and humans. Recombinant channel electrophysiology and interdisciplinary characterization of Cav2.3 phosphomutant mice revealed that the loss of Cav2.3 phosphorylation leads to channel gain-of-function via slower channel inactivation and enhanced acetylcholine-induced stimulation, resulting in increased neuronal excitability. These changes in Cav2.3 closely resemble those described for gain-of-function point-mutations in CACNA1E that cause DEE69, a disorder sharing clinical features with CDD. Our results show that these two single-gene disorders are mechanistically related. We suggest that CDD is partly a channelopathy with Cav2.3 gain-of-function, thus Cav2.3 inhibition could be therapeutic in these DEEs. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

CDKL5 deficiency disorder: clinical features, diagnosis, and managementHelen Leonard, Jenny Downs, Tim A Benke, Lindsay Swanson, Heather Olson, Scott Demarest AbstractCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. It is characterised by early-onset (generally within the first 2 months of life) seizures that are usually refractory to polypharmacy. Development is severely impaired in patients with CDD, with only a quarter of girls and a smaller proportion of boys achieving independent walking; however, there is clinical variability, which is probably genetically determined. Gastrointestinal, sleep, and musculoskeletal problems are common in CDD, as in other developmental epileptic encephalopathies, but the prevalence of cerebral visual impairment appears higher in CDD. Clinicians diagnosing infants with CDD need to be familiar with the complexities of this disorder to provide appropriate counselling to the patients' families. Despite some benefit from ketogenic diets and vagal nerve stimulation, there has been little evidence that conventional antiseizure medications or their combinations are helpful in CDD, but further treatment trials are finally underway.

The second episode of the 2-part Rare Disease Report shifts to a clinical perspective with the expertise of Dr. Pestana, a pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute who treats patients with CDKL5 deficiency disorder (CDD).

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.08.31.505900v1?rss=1 Authors: Emery, B. A., Everett, M., Lau, B. Y. B., Krishnan, K. Abstract: Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder is an X-linked neurodevelopmental disorder, where children exhibit motor, speech, cognitive and visual deficits during development as well as early onset of seizures and infantile spasms. CDKL5 disorder results from de novo mutations in CDKL5, which phosphorylates proteins including MECP2, an epigenetic regulator of critical period plasticity. How mutations in CDKL5 gene result in these neurological deficits is unknown. Using a male CDKL5-null mouse model, we systematically characterize the expression of perineuronal nets, which are extracellular matrix structures surrounding parvalbumin+ GABAergic neurons in the primary visual cortex. Perineuronal nets (PNNs) are considered to be barriers to synaptic plasticity, particularly at the end of critical period plasticity in binocular zone. In CDKL5-null male visual cortex, here we report an increase in high-intensity PNN expression in the binocular zone, a decrease in overall PNN expression in the monocular zone, and no differences in PNN expression in rostral V1. These results suggest that at the closure of the visual critical period plasticity, subregion-specific variations in PNN expression lead to functional differences in synaptic plasticity and ultimately, changes in visual function in male CDKL5-null mice. Additionally, the systematic characterization of subregion-specific expression patterns of perineuronal nets lay the groundwork for further studies to probe the roles for perineuronal nets beyond the binocular zone of the mouse primary visual cortex. Copy rights belong to original authors. Visit the link for more info Podcast created by PaperPlayer

In the first episode of a 2-part Rare Disease Report, Whitney Mitchell, mother and caregiver to her 6 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah's CDKL5 deficiency disorder (CDD) diagnosis.

Hear why genetic epilepsy syndromes (largely found in young children) have been reclassified - and not without deep thought or consideration! With world-renowned peadiatric consultant neurologist & researcher Sameer Zuberi.---More about Sameer: https://www.torierobinson.com/epilepsy-sparks-insights/sameer-zuberi-02---Glossary:There are many terms used in this recording which you can find in the Epilepsy Sparks Glossary: https://www.epilepsysparks.com/glossary---Follow Torie on:- Twitter: https://twitter.com/torierobinson10- LinkedIn: https://www.linkedin.com/torierobinson- Instagram: https://www.instagram.com/torierobinson10- Facebook: https://www.facebook.com/TorieRobinsonSpeaker- Check out the website: https://www.torierobinson.com

Hear about precision medicine for children with genetic epilepsies with Sameer Zuberi, Consultant Paediatric Neurologist, Researcher, & Honorary Prof from the Royal Hospital for Children, Glasgow, UK - with a special mention of the rare epilepsies Dravet & CDKL5 (as June happens to be Awareness month for each).---More about Sameer: https://www.torierobinson.com/epilepsy-sparks-insights/sameer-zuberi-01---Glossary:There are many terms used in this recording which you can find in the Epilepsy Sparks Glossary: https://www.epilepsysparks.com/glossary---Follow Torie on:- Twitter: https://twitter.com/torierobinson10- LinkedIn: https://www.linkedin.com/torierobinson- Instagram: https://www.instagram.com/torierobinson10- Facebook: https://www.facebook.com/TorieRobinsonSpeaker- Check out the website: https://www.torierobinson.com

Welcome to this special episode of the NeurologyLive® Mind Moments™ podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice. In 2022 and onward, whenever the FDA makes a major decision for the field of neurology, we'll be releasing short special episodes to offer a snapshot of the news, including the main takeaways for the clinical community, as well as highlights of the efficacy and safety profile of the agent in question. In this episode, we're covering the recent approvals of ganaxolone (Ztalmy; Marinus Pharmaceuticals) in cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder, also known as CDD, as well as fenfluramine (Fintepla; Zogenix/UCB) in Lennox-Gastaut syndrome (LGS). Offering commentary is a pair of experts. The first is Scott Demarest, MD, MSCS, neurologist and clinical director of precision medicine, Children's Hospital Colorado, and assistant professor of pediatrics-neurology, University of Colorado, and an investigator of the Marigold trial (NCT03572933). The second is Kelly G. Knupp, MD, MSCS, FAES, pediatric neurologist, Children's Hospital Colorado, and associate professor of pediatrics-neurology, University of Colorado, and an investigator of Study 1601 (NCT03355209). For more of NeurologyLive®'s coverage of ganaxolone's approval, head here: Ganaxolone Wins Landmark Approval for CDKL5 Deficiency Disorder. For more of NeurologyLive®'s coverage of fenfluramine's approval, head here: Fenfluramine FDA-Approved for Treatment of Lennox-Gastaut Syndrome. For more coverage of epilepsy and seizure disorders, head to NeurologyLive®'s Epilepsy clinical focus page. Episode Breakdown: 0:30 – Ganaxolone (Ztalmy; Marinus) approved for CDD 2:30 – Scott Demarest, MD, with his reaction to the approval 3:00 – Data from the Marigold study of ganaxolone 4:45 – Safety profile of ganaxolone in development 5:10 – Demarest on the landscape of care for CDD 6:20 – Clinical takeaways ahead of DEA scheduling for ganaxolone 8:40 – Fenfluramine (Fintepla; Zogenix/UCB) approved for LGS 10:55 – Kelly Knupp, MD, with her reaction to the new indication 11:30 – Efficacy data on fenfluramine in LGS 13:50 – Safety profile in LGS and Dravet syndrome 16:05 – Knupp on the potential to improve quality of life and optimal use Thanks for listening to the NeurologyLive® Mind Moments™ podcast. To support the show, be sure to rate, review, and subscribe wherever you listen to podcasts. For more neurology news and expert-driven content, visit neurologylive.com. REFERENCES 1. Marinus Pharmaceuticals Announces FDA Approval of ZTALMY® (ganaxolone) for CDKL5 Deficiency Disorder. News release. March 18, 2022. Accessed March 21, 2022. https://www.businesswire.com/news/home/20220318005282/en/Marinus-Pharmaceuticals-Announces-FDA-Approval-of-ZTALMY%C2%AE-ganaxolone-for-CDKL5-Deficiency-Disorder 2. FINTEPLA® (fenfluramine) Oral Solution Now FDA Approved for Treatment of Seizures Associated with Lennox-Gastaut Syndrome (LGS). News release. UCB. March 28, 2022. Accessed March 28, 2022. https://finance.yahoo.com/news/fintepla-fenfluramine-oral-solution-now-050000058.html

ONCE UPON A GENE - EPISODE 127 Building a Different Kind of Motherhood Experience Than We Had Anticipated with CDKL5 Deficiency Disorder Mom and Founder of Art For Hope Love Cure, Marissa Bishop Marissa Bishop's son Gregory was born with CDKL5 Deficiency Disorder (CDD), a rare neurological disease that causes a variety of symptoms including seizures and cortical visual impairment. Marissa is a board member for the International Foundation for CDKL5 Research (IFCR) and started Art For Hope|Love|Cure to raise money for CDKL5 Deficiency Disorder research. EPISODE HIGHLIGHTS Can you tell us about Gregory? Gregory is almost 6 years old and my only child. He's handsome, laid back and a great snuggler! He lives with CDKL5 Deficiency Disorder (CDD), which is a developmental and epileptic encephalopathy. His brain is missing a protein essential for healthy brain function. Being his mom has challenged me in ways I never could have imagined, but he's a wonderful little boy. How did you connect with the rare disease community and get involved in advocacy? I asked our early intervention provider to help me connect with other moms who had kids that weren't typically developing. CDKL5 has a support group for parents on Facebook and I've been able to find friendships there with other moms who have sons that are Gregory's age.  Can you share about Art For Hope|Love|Cure? Gregory doesn't have a lot of functional finger skills or function vision, so doing toddler crafts wasn't practical, but what worked best to be creative was painting on canvas. I began using Gregory's creations to raise awareness and fundraise for CDKL5. I started Art For Hope|Love|Cure on social media, took the artwork to craft shows which helped me talk to people about CDKL5. The creative endeavor has been fun and has served multiple purposes- giving Gregory and I something special we do together, raise awareness and raise funds. I'm always in search of ways to embrace Gregory's rare disease and bring richness to our lives and this has brought a lot of joy to me. CONNECT WITH MARISSA Art For Hope|Love|Cure Website https://artforhopelovecure.wixsite.com/cdkl5 Instagram @artforhopelovecure https://www.instagram.com/artforhopelovecure/?hl=en Facebook @artforhopelovecure https://www.facebook.com/artforhopelovecure LINKS & RESOURCES MENTIONED CDKL5 Parents Support Group https://www.facebook.com/groups/CDKL5/ International Foundation for CDKL5 Research (IFCR)  https://www.cdkl5.com/ Beyond the Diagnosis https://www.beyondthediagnosis.org/ NORD (National Organization for Rare Disorders) https://rarediseases.org/ ONCE UPON A GENE - EPISODE 056 - Rare Leader Patricia Weltin, CEO, Beyond the Diagnosis https://effieparks.com/podcast/episode-056-patricia-weltin-beyond-the-diagnosis NAC Rare Caregivers Guidebook https://drive.google.com/file/d/1ucr96wjmFGDFYqaKzrlkpDi_SAK4M7lA/view?usp=sharing TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Episode 9 is divided in 4 sections, we will be discussing hot topics discussed on the AES conference at Chicago (2021). We will be discussing GLUT1 epilepsy, PCDH19 related epilepsy, CDKL5 related epilepsy, and Tuberous sclerosis. Dr Ortiz is passionate about neurology and currently working on a paper on PCDH19. He is very exited to discuss these topics today.

In this podcast, Olson discusses her paper 'Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure'.   The paper is available here: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.14908   Subscribe to our channel for more: https://bit.ly/2ONCYiC ___ Listen to all our episodes: https://bit.ly/2yPFgTC __ DMCN Journal: Developmental Medicine & Child Neurology (DMCN) has defined the field of paediatric neurology and childhood-onset neurodisability for over 60 years. DMCN disseminates the latest clinical research results globally to enhance the care and improve the lives of disabled children and their families.   DMCN Journal - https://onlinelibrary.wiley.com/journal/14698749 ___   Watch DMCN videos on our YouTube channel: https://bit.ly/2ONCYiC   Find us on Twitter! @mackeithpress - https://twitter.com/mackeithpress

Neuroscientist and genetic epilepsy researcher Dr. Omar Mamad tells us how he got into his work, his speciality - from Morocco to Ireland - via France, and how he is changing the world for those affected by the rare epilepsy CDKL5; step by step.**CONNECT WITH OMAR**• Website: https://www.omarmamad.com • Twitter: https://twitter.com/MamadOmar5 • LinkedIn: https://www.linkedin.com/in/omar-mamad • Facebook: https://www.facebook.com/omar.mamad **OMAR'S ASSOCIATE ORGANISATIONS**• FutureNeuro: https://www.futureneurocentre.ie• RCSI: https://www.rcsi.com/dublin • Epilepsy Sparks: https://www.epilepsysparks.com• CDKL5UK:https://curecdkl5.org.uk • CDKL5 Ireland: http://cdkl5.ie**UPCOMING CDKL5 ALLIANCE MEETING - 19 JUNE 2021**https://www.cdkl5alliance.org/cdkl5-events**CHECK OUT THE YOUTUBE VIDEO WITH OMAR**• https://www.youtube.com/watch?v=kXTXn1rWtBw&t=45s**CONNECT WITH TORIE**• Website: https://www.torierobinson.com• Twitter: https://twitter.com/torierobinson10• LinkedIn: https://www.linkedin.com/torierobinson• Facebook: https://www.facebook.com/TorieRobinsonSpeaker**CHECK OUT TORIE'S YOUTUBE & BLOG**• YouTube: https://www.youtube.com/c/TorieRobinson• Blog: https://www.torierobinson.com/blog**HIRE TORIE AS A SPEAKER ON EPILEPSY, MENTAL HEALTH, DISABILITY, & DIVERSITY**https://www.torierobinson.com/contact

SYNGAP10 - Ep. 6 - 16 April 2021 SRF Newsletter yesterday, make sure you sign up! SSB is off and running. Webinars, another tomorrow in Spanish Sprint next Saturday - April 24th Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina SSB - Seizure sleep and behavior Do the surveys!  Links are in the newsletter and here:  syngap.fund/ssb-Behavior syngap.fund/ssb-sleep syngap.fund/ST STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), Rett SCN2A via Praxis, SCN8A & BPAN Tom Frazier (Autism Speaks, CSO) has completed Phase 1 of NET, now working on the tool.  He was just on the Today Show 2 weeks ago. - Here we are partnering with Malan, PTEN & ADNP. Sprint4Syngap is going strong: $69k+!  Way to go #TeamMyla! FondoSyngap.org is live, great work Vicky & Marta! We asked for an ICD10 code over a year ago - CDKL5, Dravet, Angleman's all have one, what's going on? You're not alone, reach out: Mike@SyngapResearchFund.org

SRF Newsletter yesterday, make sure you sign up! SSB is off and running. Webinars, another tomorrow in Spanish Sprint next Saturday - April 24th Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina SSB - Seizure sleep and behavio Do the surveys! Links are in the newsletter and here: syngap.fund/ssb-Behavior syngap.fund/ssb-sleep syngap.fund/ST STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), Rett SCN2A via Praxis, SCN8A & BPAN Tom Frazier (Autism Speaks, CSO) has completed Phase 1 of NET, now working on the tool. He was just on the Today Show 2 weeks ago. - Here we are partnering with Malan, PTEN & ADNP. Sprint4Syngap is going strong: $69k+! Way to go #TeamMyla! FondoSyngap.org is live, great work Vicky & Marta! We asked for an ICD10 code over a year ago - CDKL5, Dravet, Angleman's all have one, what's going on? You're not alone, reach out: Mike@SyngapResearchFund.org --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

012 This week I am talking with Kim Nothdruft.  Kim and her husband have 5 children, their oldest has a rare condition, CDKL5. I have been following her life (online) for awhile now and I am excited we got into some real talk this week. Kim focuses on using laughter as a coping mechanism in her life. She shares that her parenting philosophy is to take what she does well and run with it. Parents can't ever be perfect, but we can take the skills that we have and thrive with those. Kim and I both agree that it's so important in life to take responsibility for how we show up and how that impacts everyone around us. Positivity (usually) attracts positively. As moms with chaotic lives, we can see the benefits of bringing the right attitude to the table. Kim amplifies her belief that all moms have this special inner strength, the strength to do hard things and push through hard situations with their children. She wants moms to know that they can and would be able to be strong, if they had to. Finally we talk about how we try to keep an open mind and an open heart about other struggles moms are going through. This ties back to my previous episode about pain comparison. Kim says she can tap in and feel compassion for others, even if their problems seem “less” than what she's gone through. Connect with Kim:IG: https://instagram.com/calm_amongst_chaosConnect with Kara:IG: https://www.instagram.com/Kararyska/ Website: https://www.kararyska.com/Pathway to Peace Consult: Link HereFull Show Notes Click HERE to Join The Special Needs Mom Podcast Community

Hey Peas! This week we chose to talk about a very special person. Samantha. We talk about her all the time, but we wanted to really explain who she is and how she has impacted our lives. Samantha is Mamma Bears step daughter with a very rare genetic disorder called CDKL5. On this episode we talk about what its like for Mamma Bear to have a step daughter with special needs, meeting Samantha for the first time, her relationship with Samantha's mother Karen and more. Not only do we want to spread awareness for CDKL5 but we also want to give credit out there to anyone with special needs and their caretakers for changing the lives of people around them for the better. Thank you to Karen and Donny allowing Samantha to be apart of our lives and thank you to Mamma Bear for sharing her experience with us. For more Information on CDKL5 please visit the International Foundation for CDKL5 Research (IFCR)https://www.cdkl5.comFacebook Group: International Foundation for CDKL5 Research this weeks product review: Musket Powder Seasonings www.musketpowder.com

When Penny Howard’s daughter Harper died in 2016 from the rare neurodevelopmental condition CDKL5 deficiency disorder, Howard and her husband donated her brain and other tissue to research. The donation provided researchers with the first brain of someone who had CDKL5. Today, Harper’s cell lines live at the University of California, San Diego and are used to provide cells to researchers from around the world. Her brain tissue is at the Harvard Brain Tissue Resource Center. We spoke to Howard, founder and president of Hope4Harper, about her daughter’s life and death, the decision to donate her brain, and her journey to becoming an advocate for organ donation.

We introduce you to an amazing little gal named Isabella (Belly) and her parents, Charles and Alexia. Belly was diagnosed at age one with CDKL5, a very rare genetic disorder. She suffers from uncontrolled epilepsy, has a feeding tube, is non ambulatory, and also non verbal.Learn more about Isabella and shout love for her with a purchase at www.goshout.love.

In this episode, Bob talks with Kim Nothdurft. Kim is a wife, a mom, an advocate, a blogger and a former model. She shares her thoughts about those things and more. Check out Calm Amongst the Chaos Website Facebook Instagram Thanks for listening! PLEASE SUBSCRIBE & RATE THIS EPISODE! Website: Link - bobfabey.com Social Media: Instagram - @bfabey Facebook - @bobfabey.page Twitter - @bob_Fabey Interested in buying NOTMYJESUS - CLICK HERE! New Here? Bob Fabey is an Anglican priest with over 20 years of ministry experience with a variety of organizations. He holds a Master’s Degree in Divinity and a B.A. in History from the University of Montana. You can find him speaking at retreats, conferences or in churches. He does workshops and keynotes. He has traveled extensively including Africa, Russia, and Central Asia. Bob has a deep passion to see Christians live according to their faith and speaks, mentors and writes to that end. He resides in the greater Phoenix area. He loves to travel and hang out with his wife and kids, practice Brazilian Jiu-Jitsu and drink coffee. 3rd Space Podcast is an outreach of Music Serving the Word Ministries, a 501(c)(3) organization. http://musicservingtheword.org

This episode is the first in a special series recorded live at the 7th annual Global Genes RARE Patient Advocacy Summit—the largest worldwide gathering of rare disease patients, advocates, and thought leaders. First, Angie Rowe, Interim Executive Director of Global Genes, reflects on how exciting it is to spend time at the conference after all of her team’s hard work in bringing it to life. She also talks about how the summit inspires and empowers attendees, newcomers and veterans alike. Next, we hear from 2 first-time summit attendees, Christine Von Raesfeld, who was diagnosed with a bleeding disorder called thrombotic thrombocytopenic purpura at the age of 14, and Amanda Jaksha, mother of a child who was diagnosed with CDkl5 deficiency in 2012. After just a few hours at the summit, these women speak about the electricity and camaraderie at this event that make it unique.

When Katheryn Elibri Frame’s daughter was diagnosed with CDKL5 disorder, a rare neurological condition that causes treatment-resistant seizures and often severe developmental and cognitive impairments, she co-founded the International Foundation for CDKL5 Research and worked to create a roadmap to a cure. Now, she’s focusing on clinical care and advocacy for CDKL5 patients. We spoke to Frame, president and founder of the CDKL5 Research Collaborative and a Global Genes 2018 Rare Champion of Hope nominee, about the condition, her work as a patient advocate, and her efforts to create centers of excellence to improve clinical care of CDKL5 patients.

Hoy conocemos la historia de Eric, afectado de una EERR muy rara, una variante del Síndrome de Rett, CDKL5 muy severa. Esta historia es la historia de un dolor transformado en un mensaje de esperanza y de aceptación de la pérdida". Por otro lado me gustaría, en cosa de dos minutos pedir, si es posible, visibilizar un caso que salió en prensa y me hice eco el martes tras mucho trabajo para contactar con la familia, de un niño con dos EERR, una de ellas ultrarara. Su madre está desesperada por encontrar otros pacientes. Este es el enlace http://www.ydeverdadtienestres.com/2017/11/alfa-distroglicanopatia-deficit-folato-EERR.htmlIniciativa del día http://www.lamadredelpollo.es/2017/10/yo-tambien-soy-un-rey-majo.htmlhttps://reyesmajos.org/

Amanda and Joel are part of a close knit family that grew only closer after their second daughter Sadie was diagnosed with the rare disease CDKL5. Pushing past the fears and learning to live for today, the Laflammes recently welcomed another baby girl, Savahnna, who is healthy and happy.

In this episode of Epilepsy.com's Hallway Conversations, Dr. Joseph Sirven, Professor of Neurology at Mayo Clinic Arizona and Editor-in-Chief of Epilepsy.com/Professionals, interviews Katheryn Elibri Frame, DO, President, International Foundation for CDKL5 Research, about CDKL5 (IFCR)