PURPOSE Bilateral frontoparietal polymicrogyria (BFPP) has been reported in sporadic patients and in recessive pedigrees. Eleven mutations in GPR56, a gene encoding an evolutionarily dynamic G-protein-coupled receptor, have been identified in 29 patients from 18 families. The clinical features of BFPP include severe mental retardation, motor and language impairment, and epilepsy. No detailed de...

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Key-words Disease name and synonymes Excluded diseases Diagnostic criteria / definition Differential diagnosis Frequency Clinical description Management including treatment Etiology Diagnostic methods Genetic counselling Unresolved questions References Abstract Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. This disorder is defined as a crypto...

The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that p...

6n if they are designed to help our badly paid secretaries in their early months of a culture-shock state. Further, most such medical dictionaries are also impressively bound, North American and very expensive. This medical dictionary from Messrs Heinemann is nothing of the kind. It appears in a humble paperback version, as well as in hardback. Don't be deceived by the deceptively conventional ...

Introducción: Se evaluará el uso de la hormona adrenocorticotropa como tratamiento del síndrome West (síndrome Lennox-Gastaut) y tiempo requerido para progresión hacia evolución grave. Existen escasos datos sobre esta patología nuestra población. Material Métodos: trata una cohorte donde se analizaron 139 historias clínicas pacientes evaluados en dos unidades pediatría ciudad Lima entre los año...

In children with cryptogenic Lennox-Gastaut syndrome we found a functionally impaired humoral immune response to a primary antigen (haemocyanin), despite signs of a triggered immune system consisting of elevated IgG concentrations. This combination of immunological findings, considered to be the expression of a dysbalanced-triggered as well as functionally impaired-immune system, has also been ...

By Mary C Spiciarich MD (Dr. Spiciarich of Albert Einstein College of Medicine and Montefiore Medical Center has no relevant financial relationships to disclose.) Solomon L Moshe MD (Dr. Moshe of Albert Einstein College of Medicine received honorariums from Eisai for speaking engagements and from UCB as a member of the data and safety monitoring board.) Originally released July 26, 1994; last u...

In children, non-convulsive status epilepticus (NCSE) is rare and difficult to treat. Response to steroids and GABAergic medication is variable and often decreases with increasing duration of NCSE. We present our experience with oral ketamine, an NMDA-receptor antagonist, administered to five children with severe epilepsy (Lennox-Gastaut Syndrome, myoclonic-astatic epilepsy, progressive myoclon...