[Clinical characteristics of early juvenile GM2 gangliosidosis: a case report].

We describe the case of a 15-year-old male with early juvenile type GM2 gangliosidosis. He first manifested with progressive clumsiness in his extremities at the age of 1.5 years, followed by motor regression.

Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

Background: Mutations of the SCN4A gene cause several skeletal muscle channelopathies and overlapping forms of these disorders. However, the variability of the clinical presentation in childhood is confusing and not fully understood among pediatric neurologists.

Patients: We found three different mutations (p.

Prevalence of childhood epilepsy and distribution of epileptic syndromes: a population-based survey in Okayama, Japan.

Purpose: A population-based survey childhood epilepsy was undertaken in Okayama Prefecture, Japan, to determine the prevalence rate and the distribution of epilepsies and epileptic syndromes according to the International Classification (ILAE, 1989).

Methods: Information on patients younger than 13 years with active epilepsy was collected from medical records. Patients diagnosed with epilepsy according to clinical and EEG findings were put on the list even if those patients had had a single seizure or seizures occurring during febrile episodes.

Initiation of treatment and selection of antiepileptic drugs in childhood epilepsy.

Purpose: A retrospective study was carried out on 53 cases with childhood epilepsy to evaluate the validity of the initial selection of antiepileptic drug (AED).

Methods: We investigated the AEDs selected at the beginning of the treatment from the medical records of 53 untreated cases. A follow-up study was undertaken to evaluate the effects of the AEDs.