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 …

In recent years, numerous publications have reported localization-related epilepsy with
onset during early infancy, idiopathic etiology and favourable outcome. In 1963, Fukuyama …

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

Familial hemiplegic migraine (FHM) is a rare, severe, autosomal dominant subtype of
migraine with aura. Up to 75% of FHM families have a mutation in the P/Q‐type calcium …

We recently reported mutations in the sodium channel gene SCN2A in two families with
benign familial neonatal‐infantile seizures (BFNISs). Here, we aimed to refine the molecular …

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

Mutations of the sodium channel subunit gene SCN2A have been described in families with
benign familial neonatal‐infantile seizure (BFNIS). We describe two large families with …

Benign convulsion with mild gastroenteritis (CwG) is a type of afebrile seizure that occurs in
children. CwG is defined as a convulsion in a previously healthy child with no known central …

Benign epilepsies during infancy are a wide topic, which needs both clinical and nosological
clarifications. Already in 1963 Fukuyama reported patients with seizures during infancy with …

Idiopathic epilepsies are genetically determined diseases of the central nervous system
characterized by typical epileptic seizures and EEG abnormalities but not associated with …