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Clinical spectrum of STX1B-related epileptic disorders.

Stefan WolkingPatrick MayDavide MeiRikke S MøllerSimona BalestriniKatherine L HelbigCecilia Desmettre AltuzarraNicolas ChatronCharu KaiwarKatharina StöhrPeter Widdess-WalshBryce A MendelsohnAdam NumisMaria R CilioWim Van PaesschenLene L SvendsenStephanie OatesElaine HughesSushma GoyalKathleen BrownMargarita Sifuentes SaenzThomas DornHiltrud MuhleAlistair T PagnamentaDimitris V VavoulisSamantha J L KnightJenny C TaylorMaria Paola CaneviniMaria Paola CaneviniRalitza H GavrilovaZöe PowisShan TangJustus MarquetandMartin ArmstrongDuncan McHaleEric W KleeGerhard J KlugerDaniel H LowensteinSarah WeckhuysenDeb K PalIngo HelbigRenzo GuerriniRhys H ThomasMark I ReesGaetan LescaSanjay M SisodiyaYvonne G WeberDennis LalCarla MariniHolger LercheJulian Schubert
Published in: Neurology (2019)
These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.
Keyphrases
  • copy number
  • genome wide
  • machine learning
  • deep learning
  • electronic health record
  • gene expression
  • genome wide analysis