Three siblings with self-limited familial infantile epilepsy with mutation: A case series

• Published in: SAGE open medical case reports Vol. 12
• Main Authors: Naoto Iwanami, Shigeru Nagaki, Aki Gen, Daisuke Azuma, Toshiyuki Yamamoto, Tamotsu Matsunaga
• Format: Journal Article
• Language: English
• Published: SAGE Publishing 01.07.2024
• ISSN: 2050-313X
• DOI: 10.1177/2050313X241264959

We report three sisters with self-limited familial infantile epilepsy, caused by a mutation in proline-rich transmembrane protein2. Self-limited familial infantile epilepsy has been established as a distinct epileptic syndrome characterized by focal seizures in clusters of infantile-onset. The seizure types of our cases were focal with or without secondary generalization. The seizures manifested at 3–5 months of age, and each lasted 1–2 min. All three sisters fulfilled the criteria for self-limited familial infantile epilepsy, except in one case who showed interictal spikes in the right central area. The seizures were controlled with carbamazepine. When carbamazepine treatment was started, one case developed a rash, and her treatment was switched to valproic acid. However, the seizures persisted in this case such that carbamazepine was restarted. The rash did not recur. Electroencephalography showed spikes in only one case on interictal electroencephalography. All three sisters were developmentally normal, and no dyskinesia was observed during follow-up. All three sisters and their father, but not their mother, had the following pathogenic variant in proline-rich transmembrane protein2: NM_001256442.2(PRRT2): c.649dup[p.(Arg217Profs*8)]. This mutation has been identified in the majority of families with self-limited familial infantile epilepsy, paroxysmal kinesigenic dyskinesia, and/or infantile convulsion and choreoathetosis. Their father had no history of either self-limited familial infantile epilepsy or paroxysmal kinesigenic dyskinesia. The lack of a clear genotype–phenotype correlation was demonstrated in our cases with this proline-rich transmembrane protein2 mutation.