KCNT1 Epilepsies in Key Figures

Accessible Description

Les épilepsies liées au gène KCNT1 sont des maladies neurologiques rares qui touchent les patients dès les premiers mois de vie. Derrière leur rareté se cachent pourtant des réalités humaines majeures, comme l’illustrent ces quelques chiffres clés.

This infographic presents key statistics about KCNT1-related epilepsies:

Developmental and epileptic encephalopathies (DEEs) represent several distinct genetic syndromes, of which more than 50% are currently associated with an identifiable genetic cause.^1,2
More than 60 KCNT1 mutations have been described to date.^3–5
The reported mortality in published cohorts varies from 7% to 50%, depending on the type of epilepsy.^4,5
The first seizures usually occur before 12 months of age, often within the first weeks of life.^4,5
Approximately 600 patients have been reported to date in the international registry of the KCNT1 Epilepsy Foundation.^6,7
Approximately 3,000 people could be affected worldwide, according to epidemiological models.^6,8

Data from clinical cohorts, international registries and epidemiological models.

References:

[1] Scheffer IE, et al. Epilepsia. 2017;58(4):512-521.
[2] Specchio N, et al. Epilepsia. 2022;63:1393-1439.
[3] Barcia G, et al. Nat Genet. 2012 ;44 :1255-1259.
[4] Kuchenbuch M, et al Brain. 2019 ;142 :2996-3008.
[5] Bonardi CM, et al. Hum Mutat. 2021;42:154-168.
[6] KCNT1 Epilepsy Foundation. KCNT1 Patient Registry Data. 2024 (non publié).
[7] ClinicalTrials.gov. NCT07227857.
[8] Golinski SR, et al. Nat Commun. 2026;17:432.