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A member asked:
Are there any patients in south africa with stxbp1 disorder?
A doctor has provided 1 answer
200 in the world: STCBP1 is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. It is inherited from the parents in a autosomal dominant pattern (meaning one parent could have contributed a mutation). It is very rare, only 200 persons with this condition in the medical literature. Try a STCBP1 support group to find others in your area
Answered 5/13/2020
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