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MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability

Jie-Hua Yang1, Zhi-Gang Liu2, Chun-Ling Liu3

  • 1Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China; Department of Neurology, the Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.

Seizure
|March 9, 2023
PubMed
Summary

MED12 gene variants are linked to X-linked recessive partial epilepsy in males, causing seizures without intellectual disability. Genotype-phenotype correlations help explain these epilepsy variations and aid genetic diagnosis.

Keywords:
Genotype-phenotype correlationIntellectual disabilityMED12 genePartial epilepsy

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