Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an
autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We …

Initial reports described Tourette syndrome as a lifelong disorder. Since then, others have
noted that some patients experience remissions during late adolescence. To examine this …

Three pediatric patients with generalized status epilepticus unresponsive to therapy with
conventional anticonvulsants were successfully treated with moderate hypothermia (30+/-to 31+…

Objective Joubert syndrome (JS) is a recessively inherited developmental brain disorder
with several identified causative chromosomal loci. It is characterized by hypoplasia of the …

Recently, mutations in the genes encoding several of the dystrophin-associated proteins
have been identified that produce phenotypes ranging from severe Duchenne-like autosomal …

Renal tubular reabsorption rates, reabsorptive maxima, and apparent renal plasma excretory
thresholds for carnitine were determined in four children with primary systemic carnitine …

We reviewed the medication histories in 200 children with Gilles de la Tourette's syndrome
to investigate how frequently CNS stimulants may unmask a latent syndrome or worsen …

Nitrazepam, a benzodiazepine anticonvulsant, is used in the treatment of myoclonic, akinetic,
absence, generalized tonic–clonic, and complex partial epilepsies. Adverse reactions to …

• Few detailed studies have examined the long-term outcome of complex partial seizures (CPS)
in children and adolescents. Previous studies have selected patients on clinical criteria …

• Four patients had pancreatitis associated with valproic acid therapy. Three patients received
valproic acid at usual doses, and all were free of other symptoms of toxic reactions, with …