Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical
and immunological features of which parallel those of congenital viral infection. Here we …

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-line …

… N Zamponi, D Parain, R Griens, L Vallée, and C Rittey have no conflicts of interest to declare.
The authors confirm that they have read the Journal's position on issues involved in ethical …

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

Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His
mutation is associated with an early onset severe phenotype due to global smooth muscle …

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières
syndrome. Affected individuals had developed an early-onset progressive encephalopathy …

Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption
triggers a paediatric and adult startle disorder, hyperekplexia. The postsynaptic α 1 -subunit (…

… Recently there has been interest in the association between mutations in C-terminal domain
of the MECP2 gene (which causes Rett syndrome in girls) and learning difficulties in males. …

Purpose: Mutations in genes coding for the α4 and β2 subunits of the neuronal nicotinic
acetylcholine receptor receptor (CHRN) are known to cause autosomal dominant nocturnal …