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Article

Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy.

Epileptic disorders : international epilepsy journal with videotape - 1 Apr 2024

Ancora Caterina, Ortigoza-Escobar Juan Dario, Valletti Margherita Aluffi, Furia Francesca, Nielsen Jens Erik Klint, Møller Rikke S, Gardella Elena

Abstract excerpt

Pathogenic variants in SCN8A are associated with a broad phenotypic spectrum, including Self-Limiting Familial Infantile Epilepsy (SeLFIE), characterized by infancy-onset age-related seizures with normal development and cognition. Movement disorders, particularly paroxysmal kinesigenic dyskinesia typically arising after puberty, may represent another core symptom. We present the case of a 1-year-old girl with a...

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PMID: 38436508
DOI: 10.1002/epd2.20203

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