MCID: KCN020
MIFTS: 14

Kcnt1-Related Epilepsy

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kcnt1-Related Epilepsy

MalaCards integrated aliases for Kcnt1-Related Epilepsy:

Name: Kcnt1-Related Epilepsy 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is reported to be 100% for kcnt1-related eimfs [barcia et al 2012, heron et al 2012] but is reported as reduced in kcnt1-related epilepsy with other seizure phenotypes [møller et al 2015].

Classifications:



Summaries for Kcnt1-Related Epilepsy

MalaCards based summary : Kcnt1-Related Epilepsy is related to epilepsy and autosomal dominant nocturnal frontal lobe epilepsy. An important gene associated with Kcnt1-Related Epilepsy is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1). Affiliated tissues include brain, temporal lobe and dorsal root ganglion.

GeneReviews: NBK525917

Related Diseases for Kcnt1-Related Epilepsy

Graphical network of the top 20 diseases related to Kcnt1-Related Epilepsy:



Diseases related to Kcnt1-Related Epilepsy

Symptoms & Phenotypes for Kcnt1-Related Epilepsy

Drugs & Therapeutics for Kcnt1-Related Epilepsy

Search Clinical Trials , NIH Clinical Center for Kcnt1-Related Epilepsy

Genetic Tests for Kcnt1-Related Epilepsy

Anatomical Context for Kcnt1-Related Epilepsy

MalaCards organs/tissues related to Kcnt1-Related Epilepsy:

40
Brain, Temporal Lobe, Dorsal Root Ganglion

Publications for Kcnt1-Related Epilepsy

Articles related to Kcnt1-Related Epilepsy:

(show all 40)
# Title Authors PMID Year
1
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature. 24
29291456 2018
2
Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine. 24
29196578 2018
3
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. 24
29196579 2018
4
Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries. 24
28987752 2017
5
Mesial temporal lobe epilepsy associated with KCNT1 mutation. 24
28081520 2017
6
International Union of Basic and Clinical Pharmacology. C. Nomenclature and Properties of Calcium-Activated and Sodium-Activated Potassium Channels. 24
28267675 2017
7
Quinidine therapy for West syndrome with KCNTI mutation: A case report. 24
27578169 2017
8
Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain. 24
26587966 2016
9
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 24
26740507 2016
10
Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms. 24
26725113 2016
11
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 24
26648591 2016
12
Medical management of epileptic seizures: challenges and solutions. 24
26966367 2016
13
Cryo-electron microscopy structure of the Slo2.2 Na(+)-activated K(+) channel. 24
26436452 2015
14
Modulation of P-glycoprotein at the Human Blood-Brain Barrier by Quinidine or Rifampin Treatment: A Positron Emission Tomography Imaging Study. 24
26354948 2015
15
De novo KCNT1 mutations in early-onset epileptic encephalopathy. 24
26140313 2015
16
Mutations in KCNT1 cause a spectrum of focal epilepsies. 24
26122718 2015
17
Human slack potassium channel mutations increase positive cooperativity between individual channels. 24
25482562 2014
18
Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome. 24
25339316 2014
19
Targeted treatment of migrating partial seizures of infancy with quinidine. 24
25042079 2014
20
Protter: interactive protein feature visualization and integration with experimental proteomic data. 24
24162465 2014
21
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. 24
25194481 2014
22
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 24
24120652 2014
23
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24
24029078 2013
24
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. 24
23599387 2013
25
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 24
23086396 2012
26
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 24
23086397 2012
27
Regulation of neuronal excitability by interaction of fragile X mental retardation protein with slack potassium channels. 24
23115170 2012
28
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 24
20196795 2010
29
Intravenous levetiracetam terminates refractory status epilepticus in two patients with migrating partial seizures in infancy. 24
19520548 2009
30
NAD+ activates KNa channels in dorsal root ganglion neurons. 24
19386908 2009
31
Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children. 24
18446391 2008
32
Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients. 24
18230844 2008
33
Levetiracetam in a neonate with malignant migrating partial seizures. 24
16376281 2006
34
Localization of the Slack potassium channel in the rat central nervous system. 24
12442315 2002
35
Formation of intermediate-conductance calcium-activated potassium channels by interaction of Slack and Slo subunits. 24
10196543 1998
36
Migrating partial seizures in infancy: a malignant disorder with developmental arrest. 24
7555952 1995
37
Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide. 61
31208268 2019
38
Treatment Responsiveness in KCNT1-Related Epilepsy. 61
31054119 2019
39
Lack of response to quinidine in KCNT1-related neonatal epilepsy. 61
30182418 2018
40
KCNT1-Related Epilepsy 61
30234941 2018

Variations for Kcnt1-Related Epilepsy

Expression for Kcnt1-Related Epilepsy

Search GEO for disease gene expression data for Kcnt1-Related Epilepsy.

Pathways for Kcnt1-Related Epilepsy

GO Terms for Kcnt1-Related Epilepsy

Sources for Kcnt1-Related Epilepsy

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