Background Valproate is a first-line treatment for patients with newly diagnosed idiopathic
generalised or difficult to classify epilepsy, but not for women of child-bearing potential …

Background Levetiracetam and zonisamide are licensed as monotherapy for patients with
focal epilepsy, but there is uncertainty as to whether they should be recommended as first …

Background Infantile spasms constitute a severe form of epileptic encephalopathy. In the
International Collaborative Infantile Spasms Study (ICISS), we showed that combining …

Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption
triggers a paediatric and adult startle disorder, hyperekplexia. The postsynaptic α1-subunit …

We describe two children with complex cortical malformations as well as the typical
intracranial manifestations of tuberous sclerosis complex. One child had …

Background: Aicardi-Goutières syndrome (AGS) is an autosomal recessive, early onset
encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal …

Super refractory status epilepticus (srSE) refers to a SE that fails to respond to 1st and 2nd
line treatments and persists after 24 hours of anaesthesia carrying increased risk of …

Objective To determine the origin and dynamic characteristics of the generalised hyper-
synchronous spike and wave (SW) discharges in childhood absence epilepsy (CAE) …

Abstract We describe 5 infants (4 male, 1 female) with a severe intractable form of motor‐
sensory axonal neuropathy. All became ventilator‐dependent, 4 have since died and 1 …

Aicardi–Goutières syndrome (AGS) is a severe progressive familial encephalopathy, which
is usually diagnosed shortly after birth. Using the principle of homozygosity mapping …