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Results 1 - 10 of 16 for Rare genetic epilepsy
  1. CHD2 gene 
    ... Zara F, Specchio N. CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. Epilepsy Behav. 2015 Oct;51:53-6. doi: 10.1016/j.yebeh.2015.06.029. Epub 2015 Aug 7. Citation on PubMed
    https://medlineplus.gov/genetics/gene/chd2 - Genetics
  2. CSTB gene 
    ... Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of ... autosomal recessive neurological disorders identified by combined genetic ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  3. RELN gene 
    ... epilepsy with auditory features (ADEAF). People with this rare form of epilepsy typically hear sounds, like buzzing or humming, during ... Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am ... Genetics Initiative Bipolar Disorder Consortium; DePaulo JR Jr, Gershon ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  4. LGI1 gene 
    ... epilepsy with auditory features (ADEAF). People with this rare form of epilepsy typically hear sounds, like buzzing or humming, during ... Favell K, Barker PA, Perez-Tur J. The epilepsy gene LGI1 encodes a secreted glycoprotein that ... Epub 2006 Oct 26. Citation on PubMed
    https://medlineplus.gov/genetics/gene/lgi1 - Genetics
  5. ATN1 gene 
    ... in the ATN1 gene can cause a very rare condition called congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome. Individuals ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  6. PURA gene 
    ... disability, delayed development of speech and walking, and epilepsy. Some of these genetic changes remove small segments of DNA from the ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  7. CHRNA2 gene 
    ... found to cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). It appears that changes in this gene are a very rare cause of ADNFLE. Some researchers suspect that the ...
    https://medlineplus.gov/genetics/gene/chrna2 - Genetics
  8. ASAH1 gene 
    ... DE, Levade T, Boycott KM. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014 Dec;86(6):558-63. ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  9. FOXG1 gene 
    ... diagnosed with West syndrome, a condition characterized by epilepsy that ... extra genetic material leads to these developmental problems by altering ...
    https://medlineplus.gov/genetics/gene/foxg1 - Genetics
  10. GRN gene 
    ... in each cell. As a result of these genetic changes, cells make only half the usual amount of progranulin. In rare cases, affected individuals have mutations in both copies ...
    https://medlineplus.gov/genetics/gene/grn - Genetics
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