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Results 11 - 20 of 72 for Epilepsy with generalized "tonic-clonic" seizures
  1. NPRL3 gene 
    ... FFEVF), which is an uncommon form of recurrent seizures (epilepsy) that runs in families. Most of these mutations lead to the production of an abnormally short, nonfunctional protein. As a ... to the seizures of FFEVF. Research suggests that increased mTOR pathway ...
    https://medlineplus.gov/genetics/gene/nprl3 - Genetics
  2. MT-TK gene 
    ... condition is characterized by muscle twitches (myoclonus), recurrent seizures (epilepsy), abnormal muscle cells known as ragged-red fibers, ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  3. ATN1 gene 
    ... CHEDDA can have weak muscle tone (hypotonia), recurring seizures (epilepsy), vision and hearing problems, distinctive facial features, and ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  4. SMC1A gene 
    ... affect only females. Affected individuals develop severe, recurrent seizures (epilepsy) by age 2 and have intellectual and developmental ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  5. LGI1 gene 
    ... OK. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol. 2002 Sep;52(3):364-7. doi: 10.1002/ana.10280. Citation on PubMed Kalachikov S, Evgrafov O, Ross ... partial epilepsy with auditory features. Nat Genet. 2002 Mar;30( ...
    https://medlineplus.gov/genetics/gene/lgi1 - Genetics
  6. FOLR1 gene 
    ... to the intellectual disability, movement problems, and recurrent seizures (epilepsy) typical of cerebral folate transport deficiency. More About ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  7. EP300 gene 
    ... and can include vision or hearing impairment, recurrent seizures (epilepsy), frequent airway infections, and autistic behaviors that affect ...
    https://medlineplus.gov/genetics/gene/ep300 - Genetics
  8. CREBBP gene 
    ... and can include vision or hearing impairment, recurrent seizures (epilepsy), frequent airway infections, and autistic behaviors that affect ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  9. TSC1 gene 
    ... 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
  10. STAMBP gene 
    ... microcephaly), profound developmental delay and intellectual disability, recurrent seizures (epilepsy), and abnormalities of small blood vessels in the ...
    https://medlineplus.gov/genetics/gene/stambp - Genetics
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