CASARI G.

A missense mutation in the gene encoding the α2 subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 is responsible for pure BFIC syndromes, we checked mutations of the ATP1A2 gene in probands of 12...

Benign Adult Familial Myoclonic Epilepsy is an AD syndrome characterized from a non progressive cortical tremor resembling essential tremor, myoclonus and rare GTCS, first described from Japanese AA. Despite the different acronyms used (FEME, FCTE, BAFME, FAME), it seems to be a well definite clinical picture. Recently, non-Japanese families...

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Background: Spinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in AFG3L2. The AFG3L2 protein is a subunit of mitochondrial m-AAA complexes involved in protein quality control. Objective of this study was to determine the molecular mechanisms of SCA28, which has eluded...

Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF1A2 variants. We functionally validate multiple variants as protein-damaging using heterologous...