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Disease: Myokymia with neonatal epilepsy

  • A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel
  • Channelopathies as a genetic cause of epilepsy
  • Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation
  • Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
  • De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants
  • Developmental seizure susceptibility of kv1.1 potassium channel knockout mice
  • Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2
  • Ion channels and epilepsy
  • Ion channels and epilepsy
  • KCNQ2 is a nodal K+ channel
  • Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel
  • Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation
  • Nervous system KV7 disorders: breakdown of a subthreshold brake
  • Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains
  • Potassium channel genes and benign familial neonatal epilepsy
  • Self-assembly of the isolated KCNQ2 subunit interaction domain
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