KCNK4 (Potassium Two Pore Domain Channel Subfamily K Member 4) - epilepsygene - Long-term Management Of Children With Epilepsy

KCNK4

Gene product: Potassium Two Pore Domain Channel Subfamily K Member 4.

Protein function: It is expressed almost exclusively in the nervous system, controls resting membrane potential, may function as an outward rectifying channel, and is sensitive to polyunsaturated fatty acids, mechanical deformation of the membrane, and temperature changes.

Phenotype: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome (AD) [1]; Self-limited epilepsy with centrotemporal spikes (AD) [3].

Mutation database: ClinVar.

Effects of the mutation: May result in increased function of KCNK4.

Clinical research: PubMed (PMID: 30290154 (Am J Hum Genet. 2018)；PMID: 39146707 (Seizure. 2024))

Medication reminder: The choice of medication is mainly based on the different epilepsy syndromes. Sodium channel blockers and valproate sodium are effective for some patients, while some patients are resistant to the drugs. There is also a case report of a patient who responded to sultiame[2].

References:

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Oct 4;103(4):621-630.
The epilepsy phenotype of KCNK4-related neurodevelopmental disease. Seizure. 2024 Oct:121:114-122.
Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy. Front Mol Neurosci. 2023 Jan 5:15:1081097.