Brain Abnormalities

Full Study Name

Genetic Basis of Structural Brain Abnormalities and Learning Disability

Lead Site


Local Principal Investigator

Dr Usha Kini

Study Status


Main Aims

The aim of this study is to identify genes that cause structural brain abnormalities, which may be associated with learning disability with or without epilepsy.

Inclusion Criteria
  • The patient presents with a structural brain abnormality (e.g. microcephaly, lissencephaly, cerebellar hypoplasia,polymicrogyria, heterotopia) with or without epilepsy and a learning disability.
  • Patients of all ages and mental capacities, patients who are deceased, and foetal samples.
  • The patient/guardian has consented.
Exclusion Criteria
  • The patient already has a genetic diagnosis for a gene known to cause a structural brain abnormality.
Open Sites

Oxford, Leeds, Manchester, Newcastle, Bristol, Exeter, Liverpool, GOSH, Guy’s, Nottingham, Southampton, Cambridge, Sheffield, St George’s, North West London

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