Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene


Here, we described the generation of human induced pluripotent stem cell lines (hiPSCs) from fibroblasts isolated by punch biopsies of two siblings carrying inherited mutation (c.434 T > C) in the SCN1A gene, encoding for the neuronal voltage gated sodium channel NaV1.1. The mutation leads to the substitution of a highly conserved methionine with a threonine (M145T) in the protein sequence, leading to infant febrile seizures (FS). The older brother, affected by complex FS, also developed temporal lobe epilepsy (TLE) during adolescence. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Scalise S, Scaramuzzino L, Lucchino V, Esposito C, Malatesta P, Grillone K, Perrotti N, Cuda G, Parrotta EI
Journal Stem cell research
Publication Date 2020 Dec;49:102083
PubMed 33370868
DOI 10.1016/j.scr.2020.102083

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