Cluster analysis reveals distinct profiles based on age at onset, symptoms, cognitive level, presence of developmental and epileptic encephalopathy, disease mechanism, and treatment response.
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #geneticepilepsy #pediatric #pediatricmovementdisorders
We report the first epilepsy cases in AGAT deficiency, with focal seizures and varied response to antiseizure medications.
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #AGATdeficiency #childhood #creatine #GATMgene #geneticepilepsy #precisionmedicine
SCN9A variants are associated with pain disorders.
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #febrileseizures #GEFS+ #geneticepilepsy #SCN9A #sodiumchannels
📹 YouTube youtu.be/NacQ378O5gU
🎙️ Podcast shorturl.at/j0SOT
✍️ Show notes shorturl.at/OLPVI
#epilepsy #geneticepilepsy #ring20 #dravet #SCN2A #SCN8A #precisionmedicine
📹 YouTube youtu.be/NacQ378O5gU
🎙️ Podcast shorturl.at/j0SOT
✍️ Show notes shorturl.at/OLPVI
#epilepsy #geneticepilepsy #ring20 #dravet #SCN2A #SCN8A #precisionmedicine
Key point: Pathogenic variants in ATP6V0C can lead to a Dravet-like phenotype.
doi.org/10.1111/epi....
#epilepsy #ILAE #ATP6V0C #Dravetsyndrome #geneticepilepsy #parkinsonism #SCN1A #wholeexomesequencing
Key point: di-siRNA, a novel small interfering RNA technology, has potency, distribution, and durability appropriate for neurological disease.
doi.org/10.1111/epi....
#epilepsy #ILAE #DEE #electrophysiology #geneticepilepsy #oligonucleotidetherapies #sodiumactivatedpotassiumchannels
Key point: Cenobamate is a promising and safe treatment for SCN8A-related DEEs, even during early childhood.
doi.org/10.1111/epi....
#epilepsy #ILAE #drugresistantepilepsy #geneticepilepsy #sodiumchannelopathy #DEE
In today’s podcast🎧 we hear of the complexities of rare genetic 🧬 epilepsies & how epilepsy is often just 1 part of the disease! With with paediatric neurologist & epilepsy specialist Eleni Panagiotakaki 🤩! Check out the links 🔗 & chapters, here👇!
#rareepilepsy #ahc #grin #geneticepilepsy #epilepsy
📹 YouTube youtu.be/Eafo2nu3Hfs
🎧 Podcast mcdn.podbean.com/mf/web/3yxdy...
📖 Transcript & more on Eleni www.torierobinson.com/epilepsy-spa...
#rareepilepsy #ahc #grin #geneticepilepsy #epilepsy
