MCID: KCN020
MIFTS: 11

Kcnt1-Related Epilepsy

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].

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

Diseases related to Kcnt1-Related Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 epilepsy 10.4
2 autosomal dominant nocturnal frontal lobe epilepsy 10.3
3 cardiac arrhythmia 10.1
4 strabismus 10.1
5 epileptic encephalopathy, early infantile, 3 10.1
6 cyanosis, transient neonatal 10.1
7 epileptic encephalopathy, early infantile, 14 10.1
8 epilepsy, nocturnal frontal lobe, 5 10.1
9 west syndrome 10.1
10 early infantile epileptic encephalopathy 10.1
11 leukodystrophy 10.1
12 focal epilepsy 10.1
13 early myoclonic encephalopathy 10.1
14 movement disease 10.1
15 mechanical strabismus 10.1
16 microcephaly 10.1
17 malignant migrating partial seizures of infancy 10.1
18 hypotonia 10.1
19 ohtahara syndrome 10.1

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:

41
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. 4
29291456 2018
2
Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine. 4
29196578 2018
3
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. 4
29196579 2018
4
Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries. 4
28987752 2017
5
Mesial temporal lobe epilepsy associated with KCNT1 mutation. 4
28081520 2017
6
International Union of Basic and Clinical Pharmacology. C. Nomenclature and Properties of Calcium-Activated and Sodium-Activated Potassium Channels. 4
28267675 2017
7
Quinidine therapy for West syndrome with KCNTI mutation: A case report. 4
27578169 2017
8
Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain. 4
26587966 2016
9
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 4
26740507 2016
10
Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms. 4
26725113 2016
11
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 4
26648591 2016
12
Medical management of epileptic seizures: challenges and solutions. 4
26966367 2016
13
Modulation of P-glycoprotein at the Human Blood-Brain Barrier by Quinidine or Rifampin Treatment: A Positron Emission Tomography Imaging Study. 4
26354948 2015
14
Cryo-electron microscopy structure of the Slo2.2 Na(+)-activated K(+) channel. 4
26436452 2015
15
De novo KCNT1 mutations in early-onset epileptic encephalopathy. 4
26140313 2015
16
Mutations in KCNT1 cause a spectrum of focal epilepsies. 4
26122718 2015
17
Human slack potassium channel mutations increase positive cooperativity between individual channels. 4
25482562 2014
18
Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome. 4
25339316 2014
19
Targeted treatment of migrating partial seizures of infancy with quinidine. 4
25042079 2014
20
Protter: interactive protein feature visualization and integration with experimental proteomic data. 4
24162465 2014
21
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. 4
25194481 2014
22
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 4
24120652 2014
23
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 4
24029078 2013
24
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. 4
23599387 2013
25
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 4
23086396 2012
26
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 4
23086397 2012
27
Regulation of neuronal excitability by interaction of fragile X mental retardation protein with slack potassium channels. 4
23115170 2012
28
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 4
20196795 2010
29
Intravenous levetiracetam terminates refractory status epilepticus in two patients with migrating partial seizures in infancy. 4
19520548 2009
30
NAD+ activates KNa channels in dorsal root ganglion neurons. 4
19386908 2009
31
Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children. 4
18446391 2008
32
Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients. 4
18230844 2008
33
Levetiracetam in a neonate with malignant migrating partial seizures. 4
16376281 2006
34
Localization of the Slack potassium channel in the rat central nervous system. 4
12442315 2002
35
Formation of intermediate-conductance calcium-activated potassium channels by interaction of Slack and Slo subunits. 4
10196543 1998
36
Migrating partial seizures in infancy: a malignant disorder with developmental arrest. 4
7555952 1995
37
Treatment Responsiveness in KCNT1-Related Epilepsy. 38
31054119 2019
38
Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide. 38
31208268 2019
39
Lack of response to quinidine in KCNT1-related neonatal epilepsy. 38
30182418 2018
40
KCNT1-Related Epilepsy 38
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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