Titre
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.
Type
article
Institution
Externe
Périodique
Auteur(s)
Yoshinaga, H.
Auteure/Auteur
Sakoda, S.
Auteure/Auteur
Good, J.M.
Auteure/Auteur
Takahashi, M.P.
Auteure/Auteur
Kubota, T.
Auteure/Auteur
Arikawa-Hirasawa, E.
Auteure/Auteur
Nakata, T.
Auteure/Auteur
Ohno, K.
Auteure/Auteur
Kitamura, T.
Auteure/Auteur
Kobayashi, K.
Auteure/Auteur
Ohtsuka, Y.
Auteure/Auteur
Liens vers les personnes
ISSN
1878-5883
Statut éditorial
Publié
Date de publication
2012-04-15
Volume
315
Numéro
1-2
Première page
15
Dernière page/numéro d’article
19
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Résumé
Mutations in the pore-forming subunit of the skeletal muscle sodium channel (SCN4A) are responsible for hyperkalemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are classified based on their cardinal symptoms, myotonia and/or paralysis. We report the case of a Japanese boy with a novel mutation of SCN4A, p.I693L, who exhibited severe episodic myotonia from infancy and later onset mild paralytic attack. He started to have apneic episodes with generalized hypertonia at age of 11 months, then developed severe episodic myotonia since 2 years of age. He presented characteristic generalized features which resembled Schwarz-Jampel syndrome. After 7 years old, paralytic episodes occurred several times a year. The compound muscle action potential did not change during short and long exercise tests. Functional analysis of the mutant channel expressed in cultured cell revealed enhancement of the activation and disruption of the slow inactivation, which were consistent with myotonia and paralytic attack. The severe clinical features in his infancy may correspond to myotonia permanence, however, he subsequently experienced paralytic attacks. This case provides an example of the complexity and overlap of the clinical features of sodium channel myotonic disorders.
PID Serval
serval:BIB_EE7675C08063
PMID
Date de création
2022-07-11T16:50:24.339Z
Date de création dans IRIS
2025-05-20T23:00:47Z