Febrile‐infection related epilepsy syndrome (FIRES) is a devastating neurological condition
characterized by a febrile illness preceding new onset refractory status epilepticus (NORSE)…

Purpose Whole-exome sequencing (WES) can help identify known and novel pathogenic
molecular aberrations. Here, we examined the diagnostic yield of WES in population from …

Purpose Epileptic encephalopathies (EE), are a group of age-related disorders characterized
by intractable seizures and electroencephalogram (EEG) abnormalities that may result in …

We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG).
Twenty‐seven Saudi patients (14 males, 13 females) from 13 unrelated families were …

Background: Acute necrotizing encephalopathy of childhood (ANEC) is a rapidly progressing
encephalopathy characterized by fever, depressed level of consciousness, and seizures. …

Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the
central nervous system with or without peripheral nerve involvement. They are individually …

Objective To compare the combination of biotin plus thiamine to thiamine alone in treating
patients with biotin-responsive basal ganglia disease in an open-label prospective, …

WIPI2 is a member of the human WIPI protein family (seven-bladed b-propeller proteins binding
phosphatidylinositols, PROPPINs), which play a pivotal role in autophagy and has been …

Background Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have
been described in individuals with epileptic encephalopathy, ataxia or intellectual disability. …

Cerebral palsy is a syndrome that encompasses a large group of childhood movement and
posture disorders that result from a lesion occurring in the developing brain. The clinical …