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PedAM

Pediatric Disease Annotations & Medicines




Disease epilepsy
Phenotype C0221355|macrocephaly
Sentences 2
PubMedID- 24580998 Taken together, these evidences led us to consider glialcam as a candidate gene in autism-epilepsy associated with macrocephaly, and to screen a sample of individuals with asd either with or without this comorbid endophenotype.
PubMedID- 23280234 Initially, a w356x mutation in syn1 was reported in a family segregating syndromic epilepsy associated with mental retardation, macrocephaly and behavioral disturbances (aggressive behavior and asd-like phenotype) [11].

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