Challenges and directions in epilepsy diagnostics and therapeutics: Proceedings of the 17th Epilepsy Therapies and Diagnostics Development conference.

Substantial efforts are underway toward optimizing the diagnosis, monitoring, and treatment of seizures and epilepsy. We describe preclinical programs in place for screening investigational therapeutic candidates in animal models, with particular attention to identifying and eliminating drugs that might paradoxically aggravate seizure burden. After preclinical development, we discuss challenges and solutions in the design and regulatory logistics of clinical trial execution, and efforts to develop disease biomarkers and interventions that may be not only seizure-suppressing, but also disease-modifying.

Fasciculations in Children.

Fasciculations are the most common form of spontaneous muscle contraction. They frequently occur in healthy individuals. However, there are a minority of situations that fasciculations are observed in association with specific neurologic disorders.

Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy.

X-linked adrenoleukodystrophy (ALD) is a neurodegenerative peroxisomal disorder with variable clinical phenotypes. Childhood cerebral ALD (CCALD) is at the most severe end of the disease spectrum. In CCALD, the clinical manifestations include increasing deficits in behavior, vision, hearing, coordination, and motor function, as well as seizures.

Hereditary Neuropathy with Liability to Pressure Palsies.

Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion.

Natural history of conduction abnormalities in a patient with Kearns-Sayre syndrome.

Kearns-Sayre syndrome is a rare mitochondrial disorder characterized by large-scale deletion or rearrangement of mitochondrial DNA, which is usually not inherited but occur spontaneously probably at the germ cell level or very early in embryonic development by Mehndiratta et al. (Neurol India 50:162-167, 2002). Neuromuscular and cardiac conduction abnormalities are most commonly involved in these patients, which may have subtle presenting signs.