Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …

SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several
epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal …

Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

Voltage-gated sodium channels (NaV) are critical for initiation of action potentials.
Heterozygous loss-of-function mutations in NaV1. 1 channels cause severe myoclonic …

Objective: To determine the genes underlying Dravet syndrome in patients who do not have
an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in …

Summary 10· 5 million children worldwide are estimated to have active epilepsy. Over the
past 15 years, syndrome-oriented clinical and EEG diagnosis, and better aetiological …

Optimizing gas exchange, avoiding lung injury, and preserving respiratory muscle strength
and endurance are vital therapeutic objectives for managing acute lung injury. Accordingly …

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 …

Severe myoclonic epilepsy in infancy (SME) was described by Dravet in 1978 (1). In 1992,
there were at least 192 published cases (2). At present, it is more difficult to give a precise …

Recent findings from studies of two families have shown that mutations in the GABA A-
receptor γ2 subunit are associated with generalized epilepsies and febrile seizures. Here …