Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

MONDO:0010339

An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).

Also known as: X-linked epilepsy-learning disabilities-behavior disorders syndrome, epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant, epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant, epilepsy, X-linked, with variable learning disabilities and behavior disorders, epilepsy, X-linked, with variable learning disabilities and behaviour disorders

6 clinical trials for this condition and its sub-types.

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