Mutations in SPTAN1 gene are responsible for a wide spectrum of neurodevelopmental disorders including early-onset epileptic encephalopathy with progressive brain atrophy, severe intellectual disability with cerebellar malformations, and relatively milder phenotypes with or without epilepsy. Herein, we report three affected individuals including two siblings of 13 and 8 years and their 39-year-old mother, carrying a novel pathogenic variant in SPTAN1 gene. The phenotype of the index cases and their mother was remarkable for the variable expressivity, including benign convulsions with mild gastroenteritis, intellectual disability and developmental encephalopathy with epilepsy. Our clinical observation suggests for the first time that variants in SPTAN1 gene might be involved in the aetiology of benign convulsions correlated with mild gastroenteritis.

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SPTAN1 相关疾病的家族内变异性：从伴有轻度胃肠炎的良性惊厥到发育性脑病

SPTAN1 基因突变导致多种神经发育障碍，包括伴有渐进性脑萎缩的早发性癫痫性脑病、伴有小脑畸形的严重智力障碍，以及伴有或不伴有癫痫的相对较轻的表型。在此，我们报告了三个受影响的个体，包括两个 13 岁和 8 岁的兄弟姐妹和他们 39 岁的母亲，他们携带 SPTAN1 基因的新致病性变异。指示病例及其母亲的表型具有显着的可变表达性，包括轻度胃肠炎的良性惊厥、智力障碍和癫痫性发育性脑病。