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Results 1 - 10 of 26 for Cerebral malformation with epilepsy
  1. DEPDC5 gene 
    ... mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol. 2014 May;75(5):782-7. doi: 10.1002/ana.24126. Epub 2014 Apr 14. Citation on PubMed van ... variants associated with focal epilepsy. Hum Mutat. 2015 Feb;36(2):200-9. ...
    https://medlineplus.gov/genetics/gene/depdc5 - Genetics
  2. Familial focal epilepsy with variable foci 
    ... mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol. 2014 May;75(5):782-7. ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  3. ARX gene 
    ... Citation on PubMed Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  4. Partington syndrome 
    ... Citation on PubMed Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin ...
    https://medlineplus.gov/genetics/condition/partington-syndrome - Genetics
  5. ATN1 gene 
    ... can have weak muscle tone (hypotonia), recurring seizures (epilepsy), vision and hearing problems, distinctive facial features, and skeletal abnormalities. Many affected individuals have brain malformations. The ATN1 gene variants that cause CHEDDA syndrome ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  6. Microcephaly-capillary malformation syndrome 
    ... capillaries (capillary malformations).In people with microcephaly-capillary ... epilepsy). The problems with brain development and epilepsy lead ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  7. TSC1 gene 
    ... of Taylor balloon cell type. This disorder involves malformations of the cerebrum, the large, frontal part of the brain that is responsible for thinking and learning. Focal cortical dysplasia causes severe recurrent seizures (epilepsy) in affected individuals. hamartin KIAA0243 TSC1_HUMAN tuberous ...
    https://medlineplus.gov/genetics/gene/tsc1 - Genetics
  8. Lennox-Gastaut syndrome 
    ... system. The condition can also arise from brain malformations such as forms of cortical dysplasia, which are abnormalities in the outer surface of the brain (cerebral cortex). Many people with Lennox-Gastaut syndrome have a history of epilepsy beginning in infancy (infantile spasms) or a related ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  9. MTOR gene 
    ... includes focal cortical dysplasia, which is characterized by malformation of ... recurrent seizures (epilepsy) that do not respond to treatment. The gene ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  10. FOXG1 gene 
    ... starting before birth, which appears to underlie the brain malformations and severe ... seizures (epilepsy) starting in infancy, intellectual disability, and severe speech ...
    https://medlineplus.gov/genetics/gene/foxg1 - Genetics
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