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Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009
The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy.…
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B
It is shown that co-expression of the mutant ß1 subunit with a brain Na+-channel ß subunit in Xenopus laevis oocytes demonstrates that the mutation interferes with the ability of the subunit to modulate channel-gating kinetics consistent with a loss-of-function allele, developing the theme that idiopathic epilepsies are a family of channelopathies.
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
The International League Against Epilepsy (ILAE) Classification of the Epilepsies has been updated to reflect our gain in understanding of the epilepsies and their underlying mechanisms following the…
A potassium channel mutation in neonatal human epilepsy.
Impairment of potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome.
Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia
The PH gene is identified as filamin 1 (FLN1), which encodes an actin-cross-linking phosphoprotein that transduces ligand-receptor binding into actin reorganization, and which is required for locomotion of many cell types.
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
- Katherine R. Smith, J. Damiano, +14 authors S. Berkovic
- Biology, MedicineAmerican journal of human genetics
- 8 June 2012
An unanticipated link between a rare and a common neurological disorder is revealed and the pleiotropic effects of a mutation in the heterozygous or homozygous states are illustrated.
doublecortin , a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein
A novel 10 kb brain-specific cDNA interrupted by a balanced translocation in an XLIS patient that encodes a novel 40 kDa predicted protein named Doublecortin, which may define an Abl-dependent pathway regulating neuronal migration.
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
A missense mutation that replaces serine with phenylalanine at codon 248, a strongly conserved amino acid residue in the second transmembrane domain is found in all 21 available affected family members and in four obligate carriers, but not in 333 healthy control subjects.
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
It is found that the mutation in GABRG2 (encoding the gamma2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines do in fact exist and have a physiological role in preventing seizures.
Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients
Whether it is possible to diagnose specific epilepsy syndromes promptly by use of standard clinical methods, electroencephalography (EEG) and magnetic resonance imaging (MRI) and unclassified diagnosis is studied.