Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.

, the gene encoding for the Nav1.1 channel, exhibits dominant interneuron-specific expression, whereby variants disrupting the channel's function affect the initiation and propagation of action potentials and neuronal excitability causing various types of epilepsy. Dravet syndrome (DS), the first described clinical presentation of SCN1A channelopathy, is characterized by severe myoclonic epilepsy in infancy (SMEI).

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types of channels, transcription factors, and other proteins implicated in numerous cellular processes, such as synaptogenesis. Consequently, a wide spectrum of clinical presentations and overlapping phenotypes hinders differential diagnosis and highlights the need for molecular investigations toward delineation of underlying mechanisms and final diagnosis.

Abnormal gait and hypoglycorrhachia in a toddler with seizures.

Introduction: Glucose transporter type 1 (Glut1) deficiency syndrome is a treatable neurometabolic disorder characterized by seizures, developmental delay, and hypoglycorrhachia. Due to the rareness and non-specific clinical manifestations, it is usually mis- or underdiagnosed.

Case Presentation: We report the case of a toddler who presented with afebrile epileptic seizures and abnormal gait.

Miller Fisher Syndrome Triggered by Infections: A Review of the Literature and a Case Report.

Aim: We reported a case of Miller Fisher syndrome following a breakthrough varicella zoster virus infection in an otherwise healthy 6-year-old male. The objective of this review was to summarize the infectious etiologic agents known to trigger Miller Fisher syndrome.

Methods: Review of the literature on infections associated with Miller Fisher syndrome.

Aldolase A deficiency: Report of new cases and literature review.

Aldolase A (ALDOA), is the predominant isoform of aldolase in skeletal muscle and erythrocytes that catalyzes the reversibleconversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate. Autosomal recessive mutations in are extremely rare and cause hemolytic anemia and/or recurrent episodes of rhabdomyolysis, usually precipitated by fever. In this report we describe, clinical, laboratory and genetic data of two novel unrelated patients harboring mutations in the gene who presented with episodic rhabdomyolysis, we review all previously published cases and discuss the most valuable features for diagnosis of this rare disorder.

Miller Fisher Syndrome Triggered by Infections: A Review of the Literature and a Case Report.

Aim: We reported a case of Miller Fisher syndrome following a breakthrough varicella zoster virus infection in an otherwise healthy 6-year-old male. The objective of this review was to summarize the infectious etiologic agents known to trigger Miller Fisher syndrome.

Methods: Review of the literature on infections associated with Miller Fisher syndrome.

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients.

Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations.

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.

The gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functions during neurogenesis, neuronal migration, and cortical organisation. Mutations in have been reported to cause a range of brain malformations.

Chorea revealing systemic lupus erythematosus in a 13-year old boy: A case report and short review of the literature.

Among the neurological manifestations of systemic lupus erythematosus (SLE), chorea is rare, presenting in less than 7% of the pediatric SLE patients. It can appear early in the onset of SLE, be the first or even the sole clinical feature of the illness and has strongly been associated with the presence of antiphospholipid antibodies. We report on the case of a 13-year old boy, admitted with acute onset chorea and finally diagnosed with SLE.

Acute idiopathic transverse myelitis in children: early predictors of relapse and disability.

Objective: To identify early prognostic factors of relapse and disability in children presenting with an acute idiopathic transverse myelitis (TM).

Methods: Ninety-five children with acute idiopathic TM from 2 national European cohorts (France and United Kingdom) of CNS demyelinating diseases in children were identified and studied for early factors that predict relapse and disability using logistic regression models.

Results: Sixteen (17%) relapsed, with a diagnosis of multiple sclerosis in 13 (14%) and neuromyelitis optica in 3 (3%).

CSF diversion in refractory idiopathic intracranial hypertension: single-centre experience and review of efficacy.

Purpose: The current surgical management strategies for refractory cases of idiopathic intracranial hypertension (IIH) remain unresolved. We evaluated the outcome of our paediatric patients who were offered a CSF diversion procedure in order to control their symptoms.

Methods: We retrospectively reviewed the medical notes of the patients under 16 years of age, who presented in our centre from 2005 to 2010, with a confirmed diagnosis of IIH, and ultimately had a lumboperitoneal shunt (LPS).