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Results 61 - 70 of 72 for Epilepsy with generalized "tonic-clonic" seizures
  1. MT-TL1 gene 
    ... in a few people with features of myoclonic epilepsy with ragged-red fibers ... loss, seizures, and diabetes.Mutations that cause MERRF/MELAS overlap ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  2. MT-TH gene 
    ... stroke-like episodes including a loss of consciousness, seizures, and other problems affecting the nervous system. Some people with an MT-TH gene mutation also have features of another mitochondrial disorder called myoclonic epilepsy with ragged-red fibers (MERRF); these additional features ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  3. CHRNB2 gene 
    ... in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Each of these mutations changes a single ... OK. The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 2005 Dec; ...
    https://medlineplus.gov/genetics/gene/chrnb2 - Genetics
  4. CHRNA4 gene 
    ... in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Most of these mutations change single protein ... How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia. 2002;43 Suppl 5:112-22. doi: ...
    https://medlineplus.gov/genetics/gene/chrna4 - Genetics
  5. CHRNA2 gene 
    ... found to cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). It appears that changes in this gene ... known mutation actually causes a separate form of epilepsy with features similar to ADNFLE.The identified CHRNA2 ...
    https://medlineplus.gov/genetics/gene/chrna2 - Genetics
  6. ALDH7A1 gene 
    ... gene have been found to cause pyridoxine-dependent epilepsy. Most of these mutations are specific to single ... or E399Q). All mutations that cause pyridoxine-dependent epilepsy produce a nonfunctional antiquitin protein. A shortage (deficiency) ...
    https://medlineplus.gov/genetics/gene/aldh7a1 - Genetics
  7. KCNQ3 gene 
    ... KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy. Trends Neurosci. 2000 Sep;23( ... cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature. 1998 Dec 17;396(6712):687-90. ...
    https://medlineplus.gov/genetics/gene/kcnq3 - Genetics
  8. CACNA1D gene 
    ... recurrently mutated gene in autism spectrum disorders and epilepsy. Hum Mol Genet. 2017 Aug 1;26(15): ...
    https://medlineplus.gov/genetics/gene/cacna1d - Genetics
  9. AKT3 gene 
    ... Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab. 2015 Mar;114( ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  10. CLPB gene 
    ... with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
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