Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …

Purpose Establishing links between Mendelian phenotypes and genes enables the proper
interpretation of variants therein. Autozygome, a rich source of homozygous variants, has …

Background Klippel-Feil anomaly (KFA) can be seen in a number of syndromes. We describe
an apparently novel syndromic association with KFA. Methods Clinical phenotyping of two …

Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans.
Only 2 epilepsy patients to date have been reported to have recessive mutations in SCN1B as …

Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal
dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron …

Objectives: To describe the epidemiology and clinical features of stroke in a prospective
and retrospective cohort of Saudi children and ascertain the causes, pathogenesis, and risk …

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

Background Epileptic encephalopathy is a broad clinical category that is highly heterogeneous
genetically. Objective To describe a multiplex extended consanguineous family that …

Objectives: To describe the clinical features and presentations of perinatal stroke in a
prospective and retrospective cohort of Saudi children and ascertain the risk factors. Methods: …

Objective: To increase the use of evidence-based approaches in the diagnosis, investigations
and treatment of Convulsive Status Epilepticus (CSE) in children in relevant care settings. …