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

Brad A Bryan¹, Victor Faria², Kaitlyn Esposito², Danielle Boyce³, Sarah Poliquin⁴, Ian Terry⁵, Megan Wright², Amanda Abuhl², Allison Rosenberg², David Bearden⁶, Justin West², Sarah Drislane²

¹KCNT1 Epilepsy Foundation, 32531 N Scottsdale Rd, Ste 105-530, Scottsdale, AZ, USA. Electronic address: brad.bryan@kcnt1epilepsy.org.

²KCNT1 Epilepsy Foundation, 32531 N Scottsdale Rd, Ste 105-530, Scottsdale, AZ, USA.

³Tufts Clinical and Translational Science Institute, 35 Kneeland St, Boston, MA, USA.

⁴COMBINEDBrain, 1510 Old Hickory Blvd, Brentwood, TN, USA.

⁵Formerly at LunaDNA, 10070 Mesa Rim Road, San Diego, CA, USA; Aretetic Solutions, 2108 N Street #12398, Sacramento, CA, USA.

⁶University of Rochester Medical Center, Department of Neurology, 601 Elmwood Ave, Rochester, NY, USA.

PubMed DOI

Abstract

BACKGROUND: Pathogenic variants in KCNT1, encoding the sodium-activated potassium channel KNa1.1 (Slack), cause severe developmental and epileptic encephalopathies marked by early-onset, treatment-resistant seizures and profound neurodevelopmental impairment. While clinical and electrophysiological features are well described, systematic caregiver-reported data on treatment effectiveness and famil…

Create a free account to keep reading

Free members get 10 full research views every month across publications, clinical trials, FDA clearances, adverse events, and NIH grants. No credit card required.

Create Free Account Sign In

Want unlimited research access? See Pro plans

Data Accuracy Notice: Research intelligence on Health AI Central is aggregated from public sources (PubMed, ClinicalTrials.gov, FDA, NIH, CMS, and others) and refreshed nightly. Classifications and derived metrics are produced by automated methods described in our Methodology. We recommend verifying critical data points against the primary sources before making decisions.