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Article

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Epilepsia open - 1 Jun 2024

Talarico Mariagrazia, Fortunato Francesco, Labalme Audrey, Januel Louis, Chatron Nicolas, Sanlaville Damien, Sammarra Ilaria, Gagliardi Monica, Procopio Radha, Valentino Paola, Annesi Grazia, Lesca Gaetan, Gambardella Antonio

Abstract excerpt

OBJECTIVES: Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non-dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in known causative genes (CLCN1 and SCN4A). Juvenile Myoclonic Epilepsy (JME) is an epileptic syndrome identified as idiopathic generalized epilepsy, its genetics is...

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Identifiers

PMID: 38544349
DOI: 10.1002/epi4.12920
PMCID: PMC11145607

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