Title
The Molecular Genetic Investigation of Autosomal Recessive Cryptogenic Infantile
Spasms (ARCIS)
Description
West syndrome is the most common form of epileptic encephalopathy in infancy. Autosomal recessive cryptogenic infantile spasms (ARCIS) accounts for a subgroup of these patients. Using autozygosity mapping techniques in consanguineous families (with multiply affected children), this study aims to identify novel genes causing ARCIS. With the aid of the BPNSU, we aim to establish a large cohort of children with ARCIS for both mapping studies and gene identification (consanguineous families) and mutation testing of such identified genes (consanguineous and non-consanguineous families)
Lead Clinician
Dr Manju Kurian and Professor Eamonn Maher
Disease name
Autosomal Recessive Cryptogenic Infantile Spasms (ARCIS)
Case Definition
Any child with infantile spasms in which an underlying aetiology has not been identified.
Age of spasm onset: under 24 months
Inclusion Criteria
1. Any child with ‘cryptogenic’ or ‘probably symptomatic’
infantile spasms where no cause for the spasms has been identified (including
radiological, neurometabolic, syndromic or genetic causes).
2. EEG consistent with West syndrome
3. Associated developmental regression
4. Unaffected parents (both consanguineous and non-consanguineous)
Exclusion Criteria
1. Underlying cause for infantile spasms is identified
2. Families where X-linked inheritance or dominant inheritance is likely