Article
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.
Epilepsia - 1 Jun 2021
Scala Marcello, Efthymiou Stephanie, Sultan Tipu, De Waele Jolien, Panciroli Marta, Salpietro Vincenzo, Maroofian Reza, Striano Pasquale, Van Petegem Filip, Houlden Henry, Bosmans Frank
Abstract excerpt
We identified nine patients from four unrelated families harboring three biallelic variants in SCN1B (NM_001037.5: c.136C>T; p.[Arg46Cys], c.178C>T; p.[Arg60Cys], and c.472G>A; p.[Val158Met]). All subjects presented with early infantile epileptic encephalopathy 52 (EIEE52), a rare, severe developmental and epileptic encephalopathy featuring infantile onset refractory seizures followed by developmental stagnation...
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