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Landscape of genetic Infantile Epileptic Spasms Syndrome - A multicenter cohort of 124 children from India.

Balamurugan NagarajanVykuntaraju K GowdaSangeetha YoganathanIndar Kumar SharawatKavita SrivastavaNitish VoraRahul BadhekaSumita DandaUmesh KalaneAnupriya KaurPriyanka MadaanSanjiv MehtaSandeep NegiPrateek Kumar PandaSurekha RajadhyakshaArushi Gahlot SainiLokesh SainiSiddharth ShahVarunvenkat M SrinivasanRenu SutharMaya ThomasSameer VyasNaveen SankhyanJitendra Kumar Sahu
Published in: Epilepsia open (2023)
Our study highlights a heterogenous genetic landscape and phenotypic pleiotropy in children with genetic IESS.
Keyphrases
  • genome wide
  • young adults
  • copy number
  • single cell
  • clinical trial