Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.

Abstract excerpt

BACKGROUND: Pathogenic heterozygous variants in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been recently identified as the major cause of familial infantile convulsion and choreoathetosis syndrome (OMIM#602,066), a spectrum of autosomal dominant paroxysmal neurological disorders, including self-limited infantile epilepsy (SeLIE) and infantile convulsion that can be isolated (IC) or...

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