Childhood absence epilepsy is an idiopathic, generalized non-convulsive epilepsy with a
multifactorial genetic aetiology. Molecular-genetic analyses of affected human families and …

Genetic factors can cause recurrent abnormal synchronization and episodic hyperexcitability
of neuronal networks through various mechanisms. Many of the genes that have been …

In complex disease studies, it is crucial to perform multipoint linkage analysis with many
markers and to use robust nonparametric methods that take account of all pedigree …

Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are
idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are …

We studied twins to examine the genetics of epilepsy syndromes. We ascertained 358 twin
pairs in whom one or both reported seizures. After evaluation, 253 of 358 (71%) had seizure …

Imprinted genes are essential in embryonic development, and imprinting dysregulation
contributes to human disease. We report two new human imprinted genes: KCNK9 is …

Benign infantile familial convulsions is an autosomal dominant disorder characterized by
nonfebrile seizures, with the first attack occurring at age 3–12 mo. It is one of the rare forms …

We describe a maternally transmitted genomic-imprinting syndrome of mental retardation,
hypotonia, and unique dysmorphism with elongated face. We mapped the disease …

Монография посвящена современным возможностям ДНК-диагностики и основанного
на ней медико-генетического консультирования при наследственных заболеваниях …

Epilepsy is a common episodic neurological disorder or condition characterized by recurrent
epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies …