Diagnostic evaluation of patients with epileptic spasms in the era of next-generation sequencing.

Objective: Epileptic spasms (ES) can be caused by a variety of etiologies. However, in almost half of cases, the etiology is unidentified. With the advent of next-generation sequencing (NGS), the recognition of genetic etiologies has increased.

Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia.

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that is characterized by progressive muscle weakness, resulting in disability and premature death. Onset of symptoms typically occurs at 2-3 years of age, and disease progression is managed through treatment with corticosteroids. The aim of this interim analysis is to increase disease awareness and improve patient management in Saudi Arabia (SA) through the use of data from an ongoing ambispective, observational, multicenter study evaluating characteristics of patients aged 1-14 years with genetically confirmed DMD in SA.

Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome.

Objective: Epileptic encephalopathy (EE) is difficult to diagnose and manage. It can be caused by a variety of disorders, and its aetiology may guide management and prognosis. The human gene for WW domain-containing oxidoreductase (WWOX) has been associated with epileptic encephalopathy, which presents in infancy with seizures, psychomotor delay, microcephaly, and optic atrophy.

Successful treatment of epilepsia partialis continua with perampanel: two pediatric cases.

Epilepsia partialis continua (EPC) is a form of focal motor status epilepticus, associated with multiple etiologies. Etiology-specific treatments, such as hemispherotomy for Rasmussen encephalitis, lesionectomy for focal cortical dysplasia, and metabolic correction for non-ketotic hyperglycemia, have proven to be efficacious in treating EPC, but, in general, EPC is difficult to treat and often drug-resistant, and there is little evidence to guide therapy. We report the successful treatment of EPC with perampanel in two pediatric patients.

Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Objective: To describe clinical features and disease progression of Selenoprotein N-related myopathy in a large multicenter cohort of patients.

Methods: Cross-sectional multicenter data analysis of 60 patients (53 families) with Selenoprotein N-related myopathy and single-center retrospective longitudinal analysis of 25 patients (21 families) over a median period of 5.3 years.

Gender and Hemispheric Differences in Epilepsy Diagnosed by Voxel-based Morphometry (VBM) Method: a Pilot Cortical Thickness Study.

Introduction: Voxel-based morphometry (VBM) is a neuroimaging analysis technique that allows investigation of focal differences in brain anatomy, using the statistical approach of statistical parametric mapping. Gender changes are probably expressed in the human brain in the form of functional and anatomical organization.

Aim: Our aim was to study gender differences and anatomical abnormalities in epilepsy patients (EP) by voxel-based morphometry (VBM) methods.

-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.

Next-generation sequencing has led to transformative advances in our ability to diagnose rare diseases by simultaneously sequencing dozens, hundreds, or even entire genomes worth of genes to efficiently identify pathogenic mutations. These studies amount to multiple hypothesis testing on a massive scale and not infrequently lead to discovery of multiple genetic variants whose relative contributions to a patient's disease are unclear. Panel testing, in particular, can be problematic because each of the many genes being sequenced might represent a plausible explanation for a given case.

Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center.

Elevated creatine kinase is a useful screening test in the diagnostic workup of patients with neuromuscular disorders. We did a retrospective study of children with hyperCKemia (>175 IU/L) who were followed in the neuromuscular program of a tertiary care pediatric center from 2005 to 2016. Patients with hyperCKemia were divided into 2 groups: myopathic and nonmyopathic.

Neuralgic amyotrophy in children.

Introduction: Neuralgic amyotrophy (NA) is characterized by the clinical triad of pain, muscle weakness/atrophy, and sensory symptoms.

Methods: We retrospectively identified children (≤18 years old) over the course of 15 years (2003-2017) at a single pediatric center.

Results: We included 22 patients (8 females and 14 males, 6-18 years old); pain was the presenting manifestation in all of them.

Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.

Charcot-Marie-Tooth (CMT) due to ganglioside-induced differentiation associated-protein 1 (GDAP1) gene mutation can be inherited as an autosomal recessive (severe phenotype) or dominant (milder phenotype) disorder. GDAP1 protein, located in the outer mitochondrial membrane, is involved in the mitochondrial fission. Brain imaging abnormalities have not been reported in this condition.

Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children.

Background: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis.

Methods: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up.

Limbic encephalitis in a child: an atypical presentation.

Background: Limbic encephalitis is a rare disorder with a generally subacute onset evolving over days to weeks. Patients present with a variable combination of memory loss, seizures, and psychiatric disturbance, and it is not rare for patients to be initially misdiagnosed.

Patient: We describe a previously healthy 12-year-old boy who developed his first seizures at 8 years of age.