Cortical dysplastic lesions (CDyLs) are often associated with severe partial epilepsies. We
describe the electrographic counterpart of this high degree of epileptogenicity, manifested by …

The disorder of autosomal dominant nocturnal frontal lobe epilepsy has recently been
identified, and is now delineated in detail. A phenotypically homogeneous group of five families …

The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome)
and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel …

Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus
epilepsy characterized by seizures and cumulative neurological deterioration. Onset …

We studied 30, patients with partial epilepsy and a radiological or pathological diagnosis of
localized neuronal migration disorders, with a view to surgical treatment. Eight patients had …

Ion-channel gene defects are associated with a range of paroxysmal disorders, including
several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first …

The majority of epilepsies are focal in origin, with seizures emanating from one brain region.
Although focal epilepsies often arise from structural brain lesions, many affected individuals …

Background Although there is increasing recognition of the role of somatic mutations in genetic
disorders, the prevalence of somatic mutations in neurodevelopmental disease and the …

Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic
reticulum (ER)-associated polyglucosan accumulations. We previously discovered that …

Objective The DEPDC5 (DEP domain‐containing protein 5) gene, encoding a repressor of
the mTORC1 signaling pathway, has recently emerged as a major gene mutated in familial …