Associated Papers
Early-onset epileptic encephalopathy combined with cerebellar ataxia: A case report expanding the phenotypic spectrum of UBA5-related disorders.
Mustafa F et al.
Parkinsonism & Related Disorders, 2026
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.
Liu XW et al.
Clinical Neurology and Neurosurgery, 2018
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