Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
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DOI: 10.1093/hmg/ddz194
Abstract: Single germline or somatic activating mutations of mTOR pathway genes are emerging as a major cause of Type II Focal Cortical Dysplasia (FCD), hemimegalencephaly (HME), and Tuberous Sclerosis Complex (TSC). A double hit mechanism, based… read more here.
Keywords: double hit; hemimegalencephaly; rps6; mtor ... See more keywords