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Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I.

Jasmine MagheraJingru LiShawn M LamotheMarvin BraunJuan Pablo AppendinoP Y Billie AuHarley T Kurata
Published in: Epilepsia open (2020)
Biophysical and clinical effects of the T313I mutation are consistent with Kv7.3 mutations previously identified in cases of pharmacoresponsive self-limiting neonatal epilepsy. These findings expand our description of functionally characterized Kv7 channel variants and report new methods to distinguish molecular mechanisms of channel mutations.
Keyphrases
  • image quality
  • dual energy
  • copy number
  • computed tomography
  • early onset
  • gene expression
  • magnetic resonance
  • dna methylation
  • contrast enhanced