objective epilepsy occurs with a yearly incidence of 40 per 100,000 children, of which more than 25% are resistant to drug therapy. epilepsy may occur in autoimmune diseases like lupus, celiac disease and myasthenia gravis. in this study, the relationship between celiac disease and refractory epilepsy was evaluated in children with idiopathic epilepsy. material & methods hundred-fifty-five chil...

Inherited channelopathies are a heterogeneous group of disorders resulting from dysfunction of ion channels in cellular membranes. They may manifest as diseases affecting skeletal muscle contraction, the conduction system of the heart, nervous system function, and vision syndromes. We describe a family of South Indian descent with hypokalemic periodic paralysis in which four members also have i...

BACKGROUND Haptoglobin (Hp) is a plasma α2-sialoglycoprotein that contains alpha and beta chains. It displays in three common phenotypes, Hp1-1, Hp2-1, and Hp2-2. Proteins expressed by polymorphic genes have grossly different molecular sizes resulting in different diffusion rates in the brain. Haptoglobin expressed by the Hp2-2 genotype has lower hemoglobin-binding capacity than Hp1-1 or Hp2-1 ...

PURPOSE To assess the reproducibility and stability of hippocampal T2 relaxation times and examine the effects of patients' age, seizures, and duration of epilepsy on this measure. METHODS Hippocampal T2 relaxation times were measured in 63 patients with chronic epilepsy (55 with partial and 8 with idiopathic generalized seizures) using a Carr-Purcell-Meiboom-Gill sequence, echo times 22 to 2...

Although several genes for idiopathic epilepsies from families with simple Mendelian inheritance have been found, genes for the common idiopathic generalized epilepsies, where inheritance is complex, presently are elusive. We studied a large family with epilepsy where the two main phenotypes were childhood absence epilepsy (CAE) and febrile seizures (FS), which offered a special opportunity to ...

Maternal valproate (VPA) use is associated with a significant risk for congenital malformations in the exposed fetus. Since VPA is commonly used in epilepsy syndromes with a presumed genetic cause (idiopathic epilepsies), it is possible that maternal genetic background contributes to this outcome. We reviewed responses to telephone questionnaires and medical records, when available, of enrollee...