Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …

Background Rectal diazepam and buccal midazolam are used for emergency treatment of
acute febrile and afebrile (epileptic) seizures in children. We aimed to compare the safety …

Summary Background Aicardi-Goutières syndrome (AGS) is an inflammatory disorder
caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C …

The epilepsies are a group of disorders characterised by recurrent seizures caused by
episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people …

Objective: Changing trends in multiple sclerosis (MS) epidemiology may first be apparent in
the childhood population affected with first onset acquired demyelinating syndromes (ADSs) …

Headache is very common in children and young people. The correct advice and treatment
requires consideration of a wide differential diagnosis between primary and secondary …

Aim To investigate the epidemiology, clinical profile and risk factors of pseudotumor cerebri
syndrome (PTCS) in children aged 1–16 years. Methods A national prospective population …

Objective Variant ataxia‐telangiectasia is caused by mutations that allow some retained
ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe the clinical features …

Background Autoantibodies to glial, myelin and neuronal antigens have been reported in a
range of central demyelination syndromes and autoimmune encephalopathies in children …