Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Mariagrazia TalaricoFrancesco FortunatoAudrey LabalmeLouis JanuelNicolas ChatronDamien SanlavilleIlaria SammarraMonica GagliardiRadha ProcopioPaola ValentinoGrazia AnnesiGaëtan LescaAntonio GambardellaPublished in: Epilepsia open (2024)
This study analyzed all members of an Italian family, in which the mother and three siblings had myotonia and epilepsy. Genetic analysis allowed to identify a variant in the SCN4A gene, which appears to be the cause of both clinical signs in this family.