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 …

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. …

Ataxia-Telangiectasia (AT) is an autosomal recessive disorder caused by variants in ATM
gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-…

Objectives: To assess compliance with the 2017 Saudi pediatric status epilepticus management
guidelines and to printout the main obstacle for adherence to the guidelines. Methods: A …

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 …

… Author links open overlay panel Khaled Hundallah a , Asma'a Alenizi a , Amal AlHashem b ,
… Khaled Hundallah, Asma'a Alenezi, Amal AlHashem, and Brahim Tabarki participated in the …

Despite the availability of international recommendations for the management of Infantile
Epileptic Spasms Syndrome (IESS), there is a lack of recommendations adapted to the local …

Background Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA
protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. …

Objective: Epilepsy is responsible for a high number of emergency department visits.
Reducing non-elective admissions may offer significant cost savings. Our audit was aimed at …

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