Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia Article Swipe
Mariagrazia Talarico
,
Francesco Fortunato
,
Audrey Labalme
,
Louis Januel
,
Nicolas Chatron
,
Damien Sanlaville
,
Ilaria Sammarra
,
Monica Gagliardi
,
Radha Procopio
,
Paola Valentino
,
Grazia Annesi
,
Gaëtan Lesca
,
Antonio Gambardella
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/epi4.12920
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/epi4.12920
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 complex and still unclarified. The co‐occurrence of these two phenotypes is rare and the causes likely have a genetic background. In this study, we have genetically investigated an Italian family in which co‐segregates myotonia, JME, or abnormal EEG without seizures was observed. Methods All six individuals of the family, 4 affected and 2 unaffected, were clinically evaluated; EMG and EEG examinations were performed. For genetic testing, Exome Sequencing was performed for the six family members and Sanger sequencing was used to confirm the candidate variant. Results Four family members, the mother and three siblings, were affected by myotonia. Moreover, EEG recordings revealed interictal generalized sharp‐wave discharges in all affected individuals, and two siblings were affected by JME. All four affected members share the same identified variant, c.644 T > C, p.Ile215Thr, in SCN4A gene. Variants that could account for the epileptic phenotype alone, separately from the myotonic one, were not identified. Significance These results provide supporting evidence that both myotonic and epileptic phenotypes could share a common genetic background, due to variants in SCN4A gene. SCN4A pathogenic variants, already known to be causative of myotonia, likely increase the susceptibility to epilepsy in our family. Plain Language Summary 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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/epi4.12920
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi4.12920
- OA Status
- gold
- Cited By
- 2
- References
- 26
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4393272614
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4393272614Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/epi4.12920Digital Object Identifier
- Title
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Idiopathic generalized epilepsy in a family with SCN4A‐related myotoniaWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-03-27Full publication date if available
- Authors
-
Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaëtan Lesca, Antonio GambardellaList of authors in order
- Landing page
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https://doi.org/10.1002/epi4.12920Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi4.12920Direct link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi4.12920Direct OA link when available
- Concepts
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Myotonia, Epilepsy, Medicine, Internal medicine, Psychiatry, Myotonic dystrophyTop concepts (fields/topics) attached by OpenAlex
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2Total citation count in OpenAlex
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2024: 2Per-year citation counts (last 5 years)
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26Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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