ENFL5
MCID: EPL096
MIFTS: 24

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 58 76 30 13 6 74
Enfl5 58 12 76
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 5 12
Epilepsy, Frontal Lobe, Nocturnal, Type 5 41
Nocturnal Frontal Lobe Epilepsy 5 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epilepsy, nocturnal frontal lobe, 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Nocturnal Frontal Lobe, 5

OMIM : 58 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)

MalaCards based summary : Epilepsy, Nocturnal Frontal Lobe, 5, also known as enfl5, is related to ovarian dysgenesis 5 and ciliary dyskinesia, primary, 28. An important gene associated with Epilepsy, Nocturnal Frontal Lobe, 5 is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1). 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 : 76 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

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 5

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 psychosis 33 occasional (7.5%) HP:0000709
3 aggressive behavior 33 occasional (7.5%) HP:0000718
4 status epilepticus 33 occasional (7.5%) HP:0002133
5 personality disorder 33 occasional (7.5%) HP:0012075
6 depressivity 33 HP:0000716
7 behavioral abnormality 33 HP:0000708
8 cognitive impairment 33 HP:0100543
9 focal-onset seizure 33 HP:0007359

Symptoms via clinical synopsis from OMIM:

58
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:
aggression (in some patients)
depression (in some patients)
psychosis (in some patients)
behavioral disturbances (in some patients)
personality disorder (in some patients)
more

Clinical features from OMIM:

615005

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 30 KCNT1

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 5

Publications for Epilepsy, Nocturnal Frontal Lobe, 5

Variations for Epilepsy, Nocturnal Frontal Lobe, 5

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

76
# 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

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

6 (show top 50) (show all 544)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNT1 NM_020822.2(KCNT1): c.2688G> A (p.Met896Ile) single nucleotide variant Pathogenic rs797044544 GRCh37 Chromosome 9, 138670627: 138670627
2 KCNT1 NM_020822.2(KCNT1): c.2688G> A (p.Met896Ile) single nucleotide variant Pathogenic rs797044544 GRCh38 Chromosome 9, 135778781: 135778781
3 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh37 Chromosome 9, 138594203: 138594203
4 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh38 Chromosome 9, 135702357: 135702357
5 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh37 Chromosome 9, 138594134: 138594134
6 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh38 Chromosome 9, 135702288: 135702288
7 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh37 Chromosome 9, 138651612: 138651612
8 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh38 Chromosome 9, 135759766: 135759766
9 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh37 Chromosome 9, 138651559: 138651559
10 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh38 Chromosome 9, 135759713: 135759713
11 KCNT1 NM_020822.2(KCNT1): c.885G> A (p.Ala295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142756900 GRCh37 Chromosome 9, 138651555: 138651555
12 KCNT1 NM_020822.2(KCNT1): c.885G> A (p.Ala295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142756900 GRCh38 Chromosome 9, 135759709: 135759709
13 KCNT1 NM_020822.2(KCNT1): c.1104G> A (p.Ala368=) single nucleotide variant Benign/Likely benign rs146032445 GRCh37 Chromosome 9, 138656945: 138656945
14 KCNT1 NM_020822.2(KCNT1): c.1104G> A (p.Ala368=) single nucleotide variant Benign/Likely benign rs146032445 GRCh38 Chromosome 9, 135765099: 135765099
15 KCNT1 NM_020822.2(KCNT1): c.1899G> A (p.Ser633=) single nucleotide variant Conflicting interpretations of pathogenicity rs371135108 GRCh37 Chromosome 9, 138662832: 138662832
16 KCNT1 NM_020822.2(KCNT1): c.1899G> A (p.Ser633=) single nucleotide variant Conflicting interpretations of pathogenicity rs371135108 GRCh38 Chromosome 9, 135770986: 135770986
17 KCNT1 NM_020822.2(KCNT1): c.1927C> T (p.Arg643Trp) single nucleotide variant Uncertain significance rs532620254 GRCh37 Chromosome 9, 138662860: 138662860
18 KCNT1 NM_020822.2(KCNT1): c.1927C> T (p.Arg643Trp) single nucleotide variant Uncertain significance rs532620254 GRCh38 Chromosome 9, 135771014: 135771014
19 KCNT1 NM_020822.2(KCNT1): c.2235C> T (p.Ser745=) single nucleotide variant Benign/Likely benign rs146810749 GRCh37 Chromosome 9, 138664787: 138664787
20 KCNT1 NM_020822.2(KCNT1): c.2235C> T (p.Ser745=) single nucleotide variant Benign/Likely benign rs146810749 GRCh38 Chromosome 9, 135772941: 135772941
21 KCNT1 NM_020822.2(KCNT1): c.2214G> A (p.Pro738=) single nucleotide variant Conflicting interpretations of pathogenicity rs142424896 GRCh37 Chromosome 9, 138664766: 138664766
22 KCNT1 NM_020822.2(KCNT1): c.2214G> A (p.Pro738=) single nucleotide variant Conflicting interpretations of pathogenicity rs142424896 GRCh38 Chromosome 9, 135772920: 135772920
23 KCNT1 NM_020822.2(KCNT1): c.2430C> T (p.Ala810=) single nucleotide variant Benign rs139114208 GRCh37 Chromosome 9, 138669264: 138669264
24 KCNT1 NM_020822.2(KCNT1): c.2430C> T (p.Ala810=) single nucleotide variant Benign rs139114208 GRCh38 Chromosome 9, 135777418: 135777418
25 KCNT1 NM_020822.2(KCNT1): c.2376C> T (p.Asp792=) single nucleotide variant Benign/Likely benign rs149028586 GRCh37 Chromosome 9, 138669210: 138669210
26 KCNT1 NM_020822.2(KCNT1): c.2376C> T (p.Asp792=) single nucleotide variant Benign/Likely benign rs149028586 GRCh38 Chromosome 9, 135777364: 135777364
27 KCNT1 NM_020822.2(KCNT1): c.2994G> A (p.Leu998=) single nucleotide variant Benign/Likely benign rs143198263 GRCh37 Chromosome 9, 138676431: 138676431
28 KCNT1 NM_020822.2(KCNT1): c.2994G> A (p.Leu998=) single nucleotide variant Benign/Likely benign rs143198263 GRCh38 Chromosome 9, 135784585: 135784585
29 KCNT1 NM_020822.2(KCNT1): c.333G> A (p.Ser111=) single nucleotide variant Benign/Likely benign rs56008253 GRCh37 Chromosome 9, 138642022: 138642022
30 KCNT1 NM_020822.2(KCNT1): c.333G> A (p.Ser111=) single nucleotide variant Benign/Likely benign rs56008253 GRCh38 Chromosome 9, 135750176: 135750176
31 KCNT1 NM_020822.2(KCNT1): c.408C> T (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs370046449 GRCh37 Chromosome 9, 138642861: 138642861
32 KCNT1 NM_020822.2(KCNT1): c.408C> T (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs370046449 GRCh38 Chromosome 9, 135751015: 135751015
33 KCNT1 NM_020822.2(KCNT1): c.1134C> T (p.Val378=) single nucleotide variant Benign/Likely benign rs149960236 GRCh38 Chromosome 9, 135765129: 135765129
34 KCNT1 NM_020822.2(KCNT1): c.1134C> T (p.Val378=) single nucleotide variant Benign/Likely benign rs149960236 GRCh37 Chromosome 9, 138656975: 138656975
35 KCNT1 NM_020822.2(KCNT1): c.1533G> A (p.Glu511=) single nucleotide variant Benign/Likely benign rs151080601 GRCh38 Chromosome 9, 135769969: 135769969
36 KCNT1 NM_020822.2(KCNT1): c.1533G> A (p.Glu511=) single nucleotide variant Benign/Likely benign rs151080601 GRCh37 Chromosome 9, 138661815: 138661815
37 KCNT1 NM_020822.2(KCNT1): c.3157-8C> T single nucleotide variant Benign/Likely benign rs371874401 GRCh38 Chromosome 9, 135785302: 135785302
38 KCNT1 NM_020822.2(KCNT1): c.3157-8C> T single nucleotide variant Benign/Likely benign rs371874401 GRCh37 Chromosome 9, 138677148: 138677148
39 KCNT1 NM_020822.2(KCNT1): c.3340C> T (p.Arg1114Trp) single nucleotide variant Likely benign rs370085077 GRCh37 Chromosome 9, 138678205: 138678205
40 KCNT1 NM_020822.2(KCNT1): c.3340C> T (p.Arg1114Trp) single nucleotide variant Likely benign rs370085077 GRCh38 Chromosome 9, 135786359: 135786359
41 KCNT1 NM_020822.2(KCNT1): c.3641G> A (p.Arg1214Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138282349 GRCh37 Chromosome 9, 138683940: 138683940
42 KCNT1 NM_020822.2(KCNT1): c.3641G> A (p.Arg1214Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138282349 GRCh38 Chromosome 9, 135792094: 135792094
43 KCNT1 NM_020822.2(KCNT1): c.1283G> A (p.Arg428Gln) single nucleotide variant Pathogenic rs397515402 GRCh37 Chromosome 9, 138657552: 138657552
44 KCNT1 NM_020822.2(KCNT1): c.1283G> A (p.Arg428Gln) single nucleotide variant Pathogenic rs397515402 GRCh38 Chromosome 9, 135765706: 135765706
45 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh37 Chromosome 9, 138660694: 138660694
46 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh38 Chromosome 9, 135768848: 135768848
47 KCNT1 NM_020822.2(KCNT1): c.2782C> T (p.Arg928Cys) single nucleotide variant Pathogenic rs397515405 GRCh37 Chromosome 9, 138671257: 138671257
48 KCNT1 NM_020822.2(KCNT1): c.2782C> T (p.Arg928Cys) single nucleotide variant Pathogenic rs397515405 GRCh38 Chromosome 9, 135779411: 135779411
49 KCNT1 NM_020822.2(KCNT1): c.2386T> C (p.Tyr796His) single nucleotide variant Pathogenic rs397515406 GRCh37 Chromosome 9, 138669220: 138669220
50 KCNT1 NM_020822.2(KCNT1): c.2386T> C (p.Tyr796His) single nucleotide variant Pathogenic rs397515406 GRCh38 Chromosome 9, 135777374: 135777374

Expression for Epilepsy, Nocturnal Frontal Lobe, 5

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GO Terms for Epilepsy, Nocturnal Frontal Lobe, 5

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