ENFL5
MCID: EPL096
MIFTS: 32

Epilepsy, Nocturnal Frontal Lobe, 5 (ENFL5)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Nocturnal Frontal Lobe, 5

MalaCards integrated aliases for Epilepsy, Nocturnal Frontal Lobe, 5:

Name: Epilepsy, Nocturnal Frontal Lobe, 5 57 72 29 13 6 70
Enfl5 57 12 72
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 5 12
Epilepsy, Frontal Lobe, Nocturnal, Type 5 39
Epilepsy Nocturnal Frontal Lobe, 5 57
Nocturnal Frontal Lobe Epilepsy 5 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
seizures may be refractory
onset in childhood (mean 6 years)


HPO:

31
epilepsy, nocturnal frontal lobe, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060686
OMIM® 57 615005
OMIM Phenotypic Series 57 PS600513
MeSH 44 D017034
UMLS 70 C3554306

Summaries for Epilepsy, Nocturnal Frontal Lobe, 5

OMIM® : 57 Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012). For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (600513). (615005) (Updated 20-May-2021)

MalaCards based summary : Epilepsy, Nocturnal Frontal Lobe, 5, also known as enfl5, is related to ciliary dyskinesia, primary, 28 and autosomal dominant nocturnal frontal lobe epilepsy. An important gene associated with Epilepsy, Nocturnal Frontal Lobe, 5 is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1). Affiliated tissues include cortex, and related phenotypes are intellectual disability and psychosis

Disease Ontology : 12 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in heterozygous mutation in the KCNT1 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : 72 Epilepsy, nocturnal frontal lobe, 5: An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy.

Related Diseases for Epilepsy, Nocturnal Frontal Lobe, 5

Diseases in the Autosomal Dominant Nocturnal Frontal Lobe Epilepsy family:

Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, 2
Epilepsy, Nocturnal Frontal Lobe, 3 Epilepsy, Nocturnal Frontal Lobe, 4
Epilepsy, Nocturnal Frontal Lobe, 5

Diseases related to Epilepsy, Nocturnal Frontal Lobe, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 28 9.6 SPAG1 KCNT1
2 autosomal dominant nocturnal frontal lobe epilepsy 9.5 SPAG1 KCNT1

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 5

Human phenotypes related to Epilepsy, Nocturnal Frontal Lobe, 5:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 psychosis 31 occasional (7.5%) HP:0000709
3 status epilepticus 31 occasional (7.5%) HP:0002133
4 aggressive behavior 31 occasional (7.5%) HP:0000718
5 personality disorder 31 occasional (7.5%) HP:0012075
6 depressivity 31 HP:0000716
7 behavioral abnormality 31 HP:0000708
8 cognitive impairment 31 HP:0100543
9 focal-onset seizure 31 HP:0007359

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability (in some patients)
seizures occur in clusters
seizures, focal, partial, motor
vocalizations
dystonic posturing
more
Neurologic Behavioral Psychiatric Manifestations:
depression (in some patients)
aggression (in some patients)
psychosis (in some patients)
behavioral disturbances (in some patients)
personality disorder (in some patients)
more

Clinical features from OMIM®:

615005 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Nocturnal Frontal Lobe, 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Nocturnal Frontal Lobe, 5

Genetic Tests for Epilepsy, Nocturnal Frontal Lobe, 5

Genetic tests related to Epilepsy, Nocturnal Frontal Lobe, 5:

# Genetic test Affiliating Genes
1 Epilepsy, Nocturnal Frontal Lobe, 5 29 KCNT1

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 5

MalaCards organs/tissues related to Epilepsy, Nocturnal Frontal Lobe, 5:

40
Cortex

Publications for Epilepsy, Nocturnal Frontal Lobe, 5

Articles related to Epilepsy, Nocturnal Frontal Lobe, 5:

(show all 28)
# Title Authors PMID Year
1
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 57 6
23086396 2012
2
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. 57 6
18479385 2008
3
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. 6
30868116 2019
4
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. 6
29390993 2018
5
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. 6
29196579 2018
6
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6
29100083 2017
7
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 6
29186148 2017
8
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. 6
27779742 2017
9
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 6
27652284 2016
10
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6
26993267 2016
11
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 6
26740507 2016
12
A targeted resequencing gene panel for focal epilepsy. 6
27029629 2016
13
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. 6
26597493 2016
14
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
15
Quinidine in the treatment of KCNT1-positive epilepsies. 6
26369628 2015
16
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 6
25590979 2015
17
De novo KCNT1 mutations in early-onset epileptic encephalopathy. 6
26140313 2015
18
Mutations in KCNT1 cause a spectrum of focal epilepsies. 6
26122718 2015
19
Regional Specificity of GABAergic Regulation of Cross-Modal Plasticity in Mouse Visual Cortex after Unilateral Enucleation. 6
26269628 2015
20
Human slack potassium channel mutations increase positive cooperativity between individual channels. 6
25482562 2014
21
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
22
Targeted treatment of migrating partial seizures of infancy with quinidine. 6
25042079 2014
23
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 6
24463883 2014
24
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 6
24591078 2014
25
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. 6
27081515 2014
26
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 6
24029078 2013
27
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 6
24055112 2013
28
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 6
23086397 2012

Variations for Epilepsy, Nocturnal Frontal Lobe, 5

ClinVar genetic disease variations for Epilepsy, Nocturnal Frontal Lobe, 5:

6 (show top 50) (show all 609)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPAG1 NM_003114.4(SPAG1):c.679G>T (p.Glu227Ter) SNV Pathogenic 88682 rs397518459 GRCh37: 8:101196939-101196939
GRCh38: 8:100184711-100184711
2 SPAG1 NM_172218.2(SPAG1):c.2542del (p.Asp848fs) Deletion Pathogenic 88684 rs886037653 GRCh37: 8:101252889-101252889
GRCh38: 8:100240661-100240661
3 KCNT1 NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) SNV Pathogenic 412308 rs1060503696 GRCh37: 9:138670626-138670626
GRCh38: 9:135778780-135778780
4 KCNT1 NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) SNV Pathogenic 473378 rs886043455 GRCh37: 9:138675877-138675877
GRCh38: 9:135784031-135784031
5 KCNT1 NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) SNV Pathogenic 655949 rs1588385233 GRCh37: 9:138670656-138670656
GRCh38: 9:135778810-135778810
6 KCNT1 NM_020822.3(KCNT1):c.2943+1G>C SNV Pathogenic 853172 GRCh37: 9:138675972-138675972
GRCh38: 9:135784126-135784126
7 KCNT1 NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) SNV Pathogenic 853550 GRCh37: 9:138656879-138656879
GRCh38: 9:135765033-135765033
8 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 GRCh37: 9:138651532-138651532
GRCh38: 9:135759686-135759686
9 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 GRCh37: 9:138675877-138675877
GRCh38: 9:135784031-135784031
10 KCNT1 NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) SNV Pathogenic 265210 rs866242631 GRCh37: 9:138660693-138660693
GRCh38: 9:135768847-135768847
11 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 GRCh37: 9:138651532-138651532
GRCh38: 9:135759686-135759686
12 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic 39595 GRCh37: 9:138660694-138660694
GRCh38: 9:135768848-135768848
13 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 GRCh37: 9:138671275-138671275
GRCh38: 9:135779429-135779429
14 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 GRCh37: 9:138657552-138657552
GRCh38: 9:135765706-135765706
15 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 GRCh37: 9:138657552-138657552
GRCh38: 9:135765706-135765706
16 KCNT1 NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) SNV Pathogenic 432096 rs1554771469 GRCh37: 9:138650285-138650285
GRCh38: 9:135758439-135758439
17 KCNT1 NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) SNV Pathogenic 575241 GRCh37: 9:138675924-138675924
GRCh38: 9:135784078-135784078
18 SPAG1 NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter) SNV Pathogenic 88683 rs201740530 GRCh37: 8:101245664-101245664
GRCh38: 8:100233436-100233436
19 KCNT1 NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) SNV Pathogenic 183028 rs797044544 GRCh37: 9:138670627-138670627
GRCh38: 9:135778781-135778781
20 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 GRCh37: 9:138657034-138657034
GRCh38: 9:135765188-135765188
21 KCNT1 NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) SNV Pathogenic 39597 rs397515405 GRCh37: 9:138671257-138671257
GRCh38: 9:135779411-135779411
22 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) SNV Pathogenic 39598 rs397515406 GRCh37: 9:138669220-138669220
GRCh38: 9:135777374-135777374
23 KCNT1 NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) SNV Pathogenic 39597 rs397515405 GRCh37: 9:138671257-138671257
GRCh38: 9:135779411-135779411
24 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) SNV Pathogenic 39598 rs397515406 GRCh37: 9:138669220-138669220
GRCh38: 9:135777374-135777374
25 KCNT1 NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) SNV Likely pathogenic 129360 rs200694691 GRCh37: 9:138675910-138675910
GRCh38: 9:135784064-135784064
26 KCNT1 NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) SNV Likely pathogenic 948652 GRCh37: 9:138656879-138656879
GRCh38: 9:135765033-135765033
27 KCNT1 NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) SNV Likely pathogenic 937909 GRCh37: 9:138594177-138594177
GRCh38: 9:135702331-135702331
28 KCNT1 NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe) SNV Likely pathogenic 813731 GRCh37: 9:138671299-138671299
GRCh38: 9:135779453-135779453
29 KCNT1 NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) SNV Conflicting interpretations of pathogenicity 193922 rs146070496 GRCh37: 9:138651559-138651559
GRCh38: 9:135759713-135759713
30 KCNT1 NM_020822.3(KCNT1):c.2595-9C>T SNV Conflicting interpretations of pathogenicity 385486 rs369966222 GRCh37: 9:138670525-138670525
GRCh38: 9:135778679-135778679
31 KCNT1 NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) SNV Conflicting interpretations of pathogenicity 389450 rs752514808 GRCh37: 9:138656907-138656907
GRCh38: 9:135765061-135765061
32 KCNT1 NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) SNV Uncertain significance 648535 rs776232246 GRCh37: 9:138678109-138678109
GRCh38: 9:135786263-135786263
33 overlap with 17 genes NC_000009.11:g.(?_138594085)_(139440258_?)dup Duplication Uncertain significance 660707 GRCh37: 9:138594085-139440258
GRCh38:
34 KCNT1 NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) SNV Uncertain significance 540572 rs779262121 GRCh37: 9:138683978-138683978
GRCh38: 9:135792132-135792132
35 KCNT1 NM_020822.3(KCNT1):c.972C>G (p.Ile324Met) SNV Uncertain significance 930626 GRCh37: 9:138651642-138651642
GRCh38: 9:135759796-135759796
36 KCNT1 NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp) SNV Uncertain significance 940426 GRCh37: 9:138683939-138683939
GRCh38: 9:135792093-135792093
37 KCNT1 NM_020822.3(KCNT1):c.400G>T (p.Val134Phe) SNV Uncertain significance 944093 GRCh37: 9:138642853-138642853
GRCh38: 9:135751007-135751007
38 KCNT1 NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu) SNV Uncertain significance 946733 GRCh37: 9:138683905-138683905
GRCh38: 9:135792059-135792059
39 KCNT1 NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg) SNV Uncertain significance 947475 GRCh37: 9:138683950-138683950
GRCh38: 9:135792104-135792104
40 KCNT1 NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His) SNV Uncertain significance 948006 GRCh37: 9:138678275-138678275
GRCh38: 9:135786429-135786429
41 KCNT1 NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser) SNV Uncertain significance 948617 GRCh37: 9:138675927-138675927
GRCh38: 9:135784081-135784081
42 KCNT1 NM_020822.3(KCNT1):c.972C>G (p.Ile324Met) SNV Uncertain significance 930626 GRCh37: 9:138651642-138651642
GRCh38: 9:135759796-135759796
43 KCNT1 NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro) SNV Uncertain significance 960921 GRCh37: 9:138678106-138678106
GRCh38: 9:135786260-135786260
44 KCNT1 NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys) SNV Uncertain significance 962383 GRCh37: 9:138645829-138645829
GRCh38: 9:135753983-135753983
45 KCNT1 NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg) SNV Uncertain significance 963678 GRCh37: 9:138662290-138662290
GRCh38: 9:135770444-135770444
46 KCNT1 NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln) SNV Uncertain significance 473387 rs758311066 GRCh37: 9:138678206-138678206
GRCh38: 9:135786360-135786360
47 KCNT1 NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) SNV Uncertain significance 473384 rs373041291 GRCh37: 9:138678146-138678146
GRCh38: 9:135786300-135786300
48 KCNT1 NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) SNV Uncertain significance 418274 rs575162600 GRCh37: 9:138662242-138662242
GRCh38: 9:135770396-135770396
49 KCNT1 NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) SNV Uncertain significance 567928 rs1402206752 GRCh37: 9:138642838-138642838
GRCh38: 9:135750992-135750992
50 KCNT1 NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) SNV Uncertain significance 642169 rs375749415 GRCh37: 9:138676731-138676731
GRCh38: 9:135784885-135784885

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Nocturnal Frontal Lobe, 5:

72
# Symbol AA change Variation ID SNP ID
1 KCNT1 p.Arg379Gln VAR_069311 rs397515407
2 KCNT1 p.Tyr777His VAR_069315 rs397515406
3 KCNT1 p.Met877Ile VAR_069316 rs797044544
4 KCNT1 p.Arg909Cys VAR_069317 rs397515405

Expression for Epilepsy, Nocturnal Frontal Lobe, 5

Search GEO for disease gene expression data for Epilepsy, Nocturnal Frontal Lobe, 5.

Pathways for Epilepsy, Nocturnal Frontal Lobe, 5

GO Terms for Epilepsy, Nocturnal Frontal Lobe, 5

Sources for Epilepsy, Nocturnal Frontal Lobe, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....