Related Experiment Video

Updated: Apr 27, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Caregiver perspectives on disease burden and treatment priorities in KCNT1-related disorders

Brad A Bryan1, Victor Faria1, Kaitlyn Esposito1

  • 1KCNT1 Epilepsy Foundation, 32531 N Scottsdale Rd, Ste 105-530, Scottsdale, AZ, USA.

Epilepsy & Behavior : E&B
|April 25, 2026
PubMed
Abstract

Keywords:
Caregiver reported outcomesDevelopmental and epileptic encephalopathyEpilepsyFamily impactKCNT1Quality of life

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