KCNQ2 variant manifestations

Evidence-based neurology checklist on kcnq2 variant manifestations: KCNQ2 variant epileptic manifestations Benign epilepsy with centrotemporal spikes (BECTS): Rolandic epilepsy Benign familial infantile seizures (BFIS) Benign familial neonatal-infantile seizures (BFNIS) Early myoclonic…

KCNQ2 variant epileptic manifestations

  • Benign epilepsy with centrotemporal spikes (BECTS): Rolandic epilepsy
  • Benign familial infantile seizures (BFIS)
  • Benign familial neonatal-infantile seizures (BFNIS)
  • Early myoclonic encephalopathy (EME)
  • Electrical status epilepticus during slow wave sleep (ESESS)
  • Epilepsy of infancy with migrating focal seizures (EIMFS)
  • Infantile spasms with hypsarrhythmia: without neonatal seizures

KCNQ2 variant non-epileptic manifestations

Synonym

References

  1. Zara F, Specchio N, Striano P, et al. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013; 54:425-436.
  2. Soldovieri MV, Cilio MR, Miceli F, et al. Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. J Neurosci 2007; 27:4919-4928.
  3. Borgatti R, Zucca C, Cavallini A, et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology 2004; 63:57-65.
  4. Singh NA, Westenskow P, Charlier C, et al; BFNC Physician Consortium. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 2003; 126:2726-2737.
  5. Ishii A, Miyajima T, Kurahashi H, et al. KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. Epilepsy Res 2012; 102:122-125.
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