2018年9月20日 · KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Less often, KCNT1 pathogenic variants are associated with epilepsy with variable presentation.

The mission of the KCNT1 Epilepsy Foundation is to bring people together with KCNT1 gene variants and accelerate research and drug development efforts focused on finding a cure for KCNT1-related epilepsy.

KCNT1-related epilepsies fall into two broad categories: KCNT1-related developmental and epileptic encephalopathy; KCNT1-related frontal lobe epilepsy; Seizures beginning in infancy, not associated with a fever, may be the first indication of KCNT1-related epilepsy.

Potassium channel subfamily T, member 1, also known as KCNT1 or SLACK is a human gene that encodes the K Ca 4.1 protein. K Ca 4.1 is a member of the calcium-activated potassium channel protein family [5]

2024年12月25日 · KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1) is a Protein Coding gene. Diseases associated with KCNT1 include Developmental And Epileptic Encephalopathy 14 and Epilepsy, Nocturnal Frontal Lobe, 5. Among its related pathways are Sweet Taste Signaling and Activation of cAMP-Dependent PKA.

2021年7月7日 · Many patients with early onset KCNT1-related epilepsy can have breathing issues, including reactive airway disease and aspiration pneumonia. Caregivers should work with a speech therapist early to prevent and identify aspiration, to help prevent any lung problems.

2025年2月16日 · Title: An Epilepsy-Associated KCNT1 Mutation Enhances Excitability of Human iPSC-Derived Neurons by Increasing Slack K(Na) Currents. Extracerebral symptoms probably linked with KCNT1 mutation were present, including arteriovenous fistula, dilated cardiomyopathy and precocious puberty.

kcnt1基因变异主要集中在rck区域、nad+结合结构域及跨膜蛋白s5区域内，临床表现为婴儿癫痫伴游走性局灶性发作、常染色体显性夜间额叶癫痫、大田原综合征、局灶性癫痫及心律失常等。

KCNT1 encodes the largest known potassium channel subunit, K Na 1.1 (Slack, previously Slo2.2 or K Ca 4.1), which forms a tetrameric Na + -activated K + channel.

该基因编码钠激活的钾通道亚基，该亚基被认为在离子电导和发育信号通路中发挥作用。 该基因的突变会导致早发性癫痫、婴儿恶性游走性部分性发作和常染色体显性遗传性夜间额叶癫痫。 可变剪接导致多个转录本变体。 [RefSeq 提供，2012 年 12 月] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints.