The clinical picture of BRCA1-associated protein required for ATM activation-1 (BRAT1) comprises retractable early-onset epileptic encephalopathy, progressive microcephaly, and early demise. Both, inter- and intrafamilial variations of features of BRAT1-associated disease have been described. Here, the familial case of a brother and sister with homozygous pathogenic variants in BRAT1 is presented with special emphasis on differences in seizure type/onset and central nervous system lesions. The neuropathology is extensively discussed and hypotheses put forward that may shed light on etiology of brain symptomatology within the context of BRAT1 mutations.

中文翻译：

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BRAT1突变的临床病理相关性。

ATM激活1（BRAT1）所需的BRCA1相关蛋白的临床图片包括可撤回的早发性癫痫性脑病，进行性小头畸形和早期死亡。已经描述了BRAT1相关疾病特征的家族间和家族内变异。在此，介绍了一个在BRAT1中具有纯合致病性变异的兄弟姐妹的家族病例，特别强调癫痫发作类型/发作和中枢神经系统病变的差异。广泛讨论了神经病理学，并提出了可能在BRAT1突变背景下阐明脑症状病因的假说。