Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant
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Epilepsy of infancy with migrating focal seizures (EIMFS) is now a well-recognized early-onset syndrome included in the ILAE classification of the epilepsies. KCNT1 gain-of-function variants are identified in about half of patients. In the remaining cases, the... ...
