Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene
oleh: Stefania Scalise, Luana Scaramuzzino, Valeria Lucchino, Claudia Esposito, Paola Malatesta, Katia Grillone, Nicola Perrotti, Giovanni Cuda, Elvira Immacolata Parrotta
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-12-01 |
Deskripsi
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.