Genetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report

•We report the first case of GGE combined with CPVT and RYR2 variant.•RYR2 variant may represent a novel neurocardiac calcium channelopathy.•Epilepsy complications may be considered in patients with CPVT and RYR2 variant.

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Bibliographic Details
Published inSeizure (London, England) Vol. 117; pp. 284 - 287
Main Authors Konomatsu, Kazutoshi, Kakisaka, Yosuke, Jin, Kazutaka, Aiba, Takeshi, Takahashi, Shin, Ueda, Hironobu, Kubota, Takafumi, Soga, Temma, Ukishiro, Kazushi, Aoki, Masashi, Nakasato, Nobukazu
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.04.2024
Subjects
Epilepsy, Generalized - genetics
Female
Humans
Male
Mutation
Ryanodine Receptor Calcium Release Channel - genetics
Tachycardia, Ventricular - diagnosis
Tachycardia, Ventricular - genetics
Tachycardia, Ventricular - physiopathology
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Summary:•We report the first case of GGE combined with CPVT and RYR2 variant.•RYR2 variant may represent a novel neurocardiac calcium channelopathy.•Epilepsy complications may be considered in patients with CPVT and RYR2 variant.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Correspondence-3
content type line 23
ObjectType-Report-1
ISSN:1059-1311
1532-2688
1532-2688
DOI:10.1016/j.seizure.2024.04.003