Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.

Objective: Family members carrying the same SCN1A variant often exhibit differences in the clinical severity of epilepsy. This variable expressivity suggests that other factors aside from the primary sodium channel variant influence the clinical manifestation. However, identifying such factors has proven challenging in humans.

Widespread cortical dyslamination in epilepsy patients with malformations of cortical development.

Purpose: Recent research in epilepsy patients confirms our understanding of epilepsy as a network disorder with widespread cortical compromise. Here, we aimed to investigate the neocortical laminar architecture in patients with focal cortical dysplasia (FCD) and periventricular nodular heterotopia (PNH) using clinically feasible 3 T MRI.

Methods: Eighteen epilepsy patients (FCD and PNH groups; n = 9 each) and age-matched healthy controls (n = 9) underwent T1 relaxation 3 T MRI, from which component probability T1 maps were utilized to extract sub-voxel composition of 6 T1 cortical layers.

Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years.

Pontocerebellar hypoplasia (PCH) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by cerebellar and pontine hypoplasia, progressive microcephaly, and developmental delay. Ten types of PCH have been described; PCH type 2A (PCH2A) due to a mutation in is the most frequent. Seizures have been reported in the large majority of patients.

Dual array EEG-fMRI: An approach for motion artifact suppression in EEG recorded simultaneously with fMRI.

Objective: Although simultaneous recording of EEG and MRI has gained increasing popularity in recent years, the extent of its clinical use remains limited by various technical challenges. Motion interference is one of the major challenges in EEG-fMRI. Here we present an approach which reduces its impact with the aid of an MR compatible dual-array EEG (daEEG) in which the EEG itself is used both as a brain signal recorder and a motion sensor.

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

We describe two siblings born to consanguineous Arab-Muslim parents who presented in early infancy with myoclonic seizures, hypertonia and contractures, arrested head growth, inability to swallow, and bouts of apnea-bradycardia, culminating in cardiac arrest and death. Whole-genome sequencing yielded a c.1173delG mutation in the BRAT1 gene.

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.

Aim: To characterize a new subset of early myoclonic encephalopathy usually associated with metabolic etiologies with a new genetic entity.

Methods: We describe two siblings with early myoclonic encephalopathy born to consanguineous parents of Arab Muslim origin from Israel. We used homozygosity mapping and candidate gene sequencing to reveal the genetic basis of the myoclonic syndrome.

Sensitivity and specificity of seizure-onset zone estimation by ictal magnetoencephalography.

Purpose: Ictal video-electroencephalography (EEG) is commonly used to establish ictal onset-zone location. Recently software development has enabled systematic studies of ictal magnetoencephalography (MEG). In this article, we evaluate the ability of ictal MEG signals to localize the seizure-onset zone.

Immunoglobulin treatment for severe childhood epilepsy.

We have used intravenous immunoglobulin to treat pediatric patients with various severe epileptic conditions. This retrospective, multicenter study comprised 64 consecutive patients treated with immunoglobulins for either epileptic encephalopathy or refractory epilepsy. The rate of full or partial improvement according to specific syndrome involved three of four patients with idiopathic West syndrome, six of 12 patients with electrical status epilepticus in sleep, eight of 19 patients with an undefined syndrome, one of three patients with Landau-Kleffner syndrome, and one of two patients with Rasmussen encephalitis.

Beliefs and emotional reactions in patients with benign paroxysmal positional vertigo: a longitudinal study.

Objective: Psychologic studies in patients with benign paroxysmal positional vertigo (BPPV) are scarce, considering the high frequency of the disorder. We performed a repeated-measures design questionnaire study in a cohort of patients with BPPV before and after treatment to investigate the dynamics of the psychologic findings and possible treatment consequences.

Methods: Thirty-seven consecutive patients with idiopathic BPPV participated in the study.

Epilepsy associated with pediatric brain tumors: the neuro-oncologic perspective.

The aim of the study was to correlate the onset of epilepsy with the disease stage in children with brain tumors through treatment and follow-up in the oncologic department. The study sample consisted of a heterogenous group of 219 children who were aged 6 months to 11 years, manifested brain tumors, and had been treated and monitored in the Department of Pediatric Oncology of the Schneider Children's Medical Center of Israel since 1991. The overall rate of epilepsy was 14.

Clinical experience with open-label topiramate use in infants younger than 2 years of age.

To assess the efficacy, safety, and tolerability of topiramate in infants younger than 24 months of age, we conducted an open-label, multicenter chart review study of infants who received topiramate. Twenty-eight patients were evaluated. All had refractory epilepsy.