Tomoyuki Akiyama

Abstract We report a child with severe developmental and epileptic encephalopathy carrying a rare SCN8A splice‑site variant. Although its pathogenicity was initially unclear, a minigene assay demonstrated aberrant splicing, indicating a loss‑of‑function mechanism. Integrated clinical, genetic and functional evidence classified the variant as pathogenic, underscoring the importance of splicing assays for interpreting rare SCN8A variants.

SCA spinocerebellar ataxia To the Editor, Spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative disorders that primarily manifest as adult-onset cerebellar ataxia. To date, approximately 30 subtypes have been identified (Klockgether et al. 2019).

Japanese words that even the most proficient learners of the language find the hardest to pronounce can be, ironically, the ones borrowed from their own native tongue. My wife, who's originally from the United States and now is a fluent speaker of Japanese after living in Japan for 15 years, still struggles to pronounce one of her home country's most well-known brands — "McDonald's," which in Japanese is マクドナルド (makudonarudo).