Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

Objective: To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome.

Methods: We report two families each of two generations harboring a novel and a previously described heterozygous TUBB3 pathogenic variants. We compared these patients with other published TUBB3-related cases.

Clinical outcomes of closed-loop vagal nerve stimulation in patients with refractory epilepsy.

Purpose: The AspireSR® is a vagal nerve stimulation (VNS) device that operates as a closed-loop system, delivering an automatic stimulation in response to an ictal heart rate increase that serves as a predictor for an imminent seizure. Our purpose is to assess the outcome of the AspireSR® in a patient population managed in a pediatric neurology unit.

Methods: The records of patients who underwent transplantation during 2015-2017 and are continuously followed in one pediatric-epilepsy clinic, were retrospectively analyzed.

CBD-enriched medical cannabis for intractable pediatric epilepsy: The current Israeli experience.

Purpose: To describe the experience of five Israeli pediatric epilepsy clinics treating children and adolescents diagnosed as having intractable epilepsy with a regimen of medical cannabis oil.

Methods: A retrospective study describing the effect of cannabidiol (CBD)-enriched medical cannabis on children with epilepsy. The cohort included 74 patients (age range 1-18 years) with intractable epilepsy resistant to >7 antiepileptic drugs.

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

Objective: Ataxia telangiectasia (AT) is a rare genetic, multi-system disorder characterized by neurodegeneration, chromosome instability, B and T cell immunodeficiency and a predisposition to cancer. We examined immunologic parameters reflecting cell development and proliferation and their relevancy to the clinical phenotype in affected individuals.

Patients And Methods: AT patients from the AT National Clinic in Israel underwent immunological investigation.

Familial pure proximal renal tubular acidosis--a clinical and genetic study.

Background: Inherited proximal renal tubular acidosis (pRTA) is commonly associated with more generalized proximal tubular dysfunctions and occasionally with other organ system defects. Inherited combined pRTA and distal RTA with osteopetrosis and pure pRTA associated with ocular abnormalities, a rare disease which has been recently described. Only one family with pure isolated pRTA has been reported so far and the genetic cause for this disease is unknown.

Pediatric refractory partial status epilepticus responsive to topiramate.

Topiramate was safely administered to two young children with refractory partial status epilepticus via nasogastric tube in rapid titration up to a very high total daily dose. An excellent clinical response occurred in both cases. Reaching high daily doses of topiramate within days allowed for safe discontinuation of other antiepileptic drugs in both patients.