MCID: EPL096
MIFTS: 23

Epilepsy, Nocturnal Frontal Lobe, 5

Categories: Genetic diseases, Neuronal 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 75 29 13 6 73
Enfl5 57 12 75
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 5 12
Epilepsy, Frontal Lobe, Nocturnal, Type 5 40
Nocturnal Frontal Lobe Epilepsy 5 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, nocturnal frontal lobe, 5:
Inheritance autosomal dominant inheritance


Classifications:



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)

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 behavioral abnormality 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 : 75 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 related to Epilepsy, Nocturnal Frontal Lobe, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ovarian dysgenesis 5 9.6 KCNT1 SOHLH1
2 ciliary dyskinesia, primary, 28 9.0 LOC105375668 SPAG1

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 5

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 32 HP:0000708
2 psychosis 32 occasional (7.5%) HP:0000709
3 depressivity 32 HP:0000716
4 aggressive behavior 32 occasional (7.5%) HP:0000718
5 intellectual disability 32 occasional (7.5%) HP:0001249
6 status epilepticus 32 occasional (7.5%) HP:0002133
7 focal seizures 32 HP:0007359
8 personality disorder 32 occasional (7.5%) HP:0012075
9 cognitive impairment 32 HP:0100543

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

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:

75
# 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 430)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNT1 NM_020822.2(KCNT1): c.1283G> A (p.Arg428Gln) single nucleotide variant Pathogenic rs397515402 GRCh37 Chromosome 9, 138657552: 138657552
2 KCNT1 NM_020822.2(KCNT1): c.1283G> A (p.Arg428Gln) single nucleotide variant Pathogenic rs397515402 GRCh38 Chromosome 9, 135765706: 135765706
3 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh37 Chromosome 9, 138660694: 138660694
4 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh38 Chromosome 9, 135768848: 135768848
5 KCNT1 NM_020822.2(KCNT1): c.2782C> T (p.Arg928Cys) single nucleotide variant Pathogenic rs397515405 GRCh37 Chromosome 9, 138671257: 138671257
6 KCNT1 NM_020822.2(KCNT1): c.2782C> T (p.Arg928Cys) single nucleotide variant Pathogenic rs397515405 GRCh38 Chromosome 9, 135779411: 135779411
7 KCNT1 NM_020822.2(KCNT1): c.2386T> C (p.Tyr796His) single nucleotide variant Pathogenic rs397515406 GRCh37 Chromosome 9, 138669220: 138669220
8 KCNT1 NM_020822.2(KCNT1): c.2386T> C (p.Tyr796His) single nucleotide variant Pathogenic rs397515406 GRCh38 Chromosome 9, 135777374: 135777374
9 KCNT1 NM_020822.2(KCNT1): c.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs397515407 GRCh37 Chromosome 9, 138657034: 138657034
10 KCNT1 NM_020822.2(KCNT1): c.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs397515407 GRCh38 Chromosome 9, 135765188: 135765188
11 SPAG1 NM_172218.2(SPAG1): c.679G> T (p.Glu227Ter) single nucleotide variant Pathogenic rs397518459 GRCh37 Chromosome 8, 101196939: 101196939
12 SPAG1 NM_172218.2(SPAG1): c.679G> T (p.Glu227Ter) single nucleotide variant Pathogenic rs397518459 GRCh38 Chromosome 8, 100184711: 100184711
13 SPAG1 NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter) single nucleotide variant Pathogenic rs201740530 GRCh37 Chromosome 8, 101245664: 101245664
14 SPAG1 NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter) single nucleotide variant Pathogenic rs201740530 GRCh38 Chromosome 8, 100233436: 100233436
15 SPAG1 NM_172218.2(SPAG1): c.2542delG (p.Asp848Ilefs) deletion Pathogenic rs886037653 GRCh37 Chromosome 8, 101252892: 101252892
16 SPAG1 NM_172218.2(SPAG1): c.2542delG (p.Asp848Ilefs) deletion Pathogenic rs886037653 GRCh38 Chromosome 8, 100240664: 100240664
17 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh37 Chromosome 9, 138651532: 138651532
18 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh38 Chromosome 9, 135759686: 135759686
19 KCNT1 NM_020822.2(KCNT1): c.2688G> A (p.Met896Ile) single nucleotide variant Pathogenic rs797044544 GRCh37 Chromosome 9, 138670627: 138670627
20 KCNT1 NM_020822.2(KCNT1): c.2688G> A (p.Met896Ile) single nucleotide variant Pathogenic rs797044544 GRCh38 Chromosome 9, 135778781: 135778781
21 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh37 Chromosome 9, 138594203: 138594203
22 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh38 Chromosome 9, 135702357: 135702357
23 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh37 Chromosome 9, 138594134: 138594134
24 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh38 Chromosome 9, 135702288: 135702288
25 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh37 Chromosome 9, 138651612: 138651612
26 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh38 Chromosome 9, 135759766: 135759766
27 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh37 Chromosome 9, 138651559: 138651559
28 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh38 Chromosome 9, 135759713: 135759713
29 KCNT1 NM_020822.2(KCNT1): c.885G> A (p.Ala295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142756900 GRCh37 Chromosome 9, 138651555: 138651555
30 KCNT1 NM_020822.2(KCNT1): c.885G> A (p.Ala295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142756900 GRCh38 Chromosome 9, 135759709: 135759709
31 KCNT1 NM_020822.2(KCNT1): c.1104G> A (p.Ala368=) single nucleotide variant Benign/Likely benign rs146032445 GRCh37 Chromosome 9, 138656945: 138656945
32 KCNT1 NM_020822.2(KCNT1): c.1104G> A (p.Ala368=) single nucleotide variant Benign/Likely benign rs146032445 GRCh38 Chromosome 9, 135765099: 135765099
33 KCNT1 NM_020822.2(KCNT1): c.1899G> A (p.Ser633=) single nucleotide variant Conflicting interpretations of pathogenicity rs371135108 GRCh37 Chromosome 9, 138662832: 138662832
34 KCNT1 NM_020822.2(KCNT1): c.1899G> A (p.Ser633=) single nucleotide variant Conflicting interpretations of pathogenicity rs371135108 GRCh38 Chromosome 9, 135770986: 135770986
35 KCNT1 NM_020822.2(KCNT1): c.1927C> T (p.Arg643Trp) single nucleotide variant Uncertain significance rs532620254 GRCh37 Chromosome 9, 138662860: 138662860
36 KCNT1 NM_020822.2(KCNT1): c.1927C> T (p.Arg643Trp) single nucleotide variant Uncertain significance rs532620254 GRCh38 Chromosome 9, 135771014: 135771014
37 KCNT1 NM_020822.2(KCNT1): c.2235C> T (p.Ser745=) single nucleotide variant Benign/Likely benign rs146810749 GRCh37 Chromosome 9, 138664787: 138664787
38 KCNT1 NM_020822.2(KCNT1): c.2235C> T (p.Ser745=) single nucleotide variant Benign/Likely benign rs146810749 GRCh38 Chromosome 9, 135772941: 135772941
39 KCNT1 NM_020822.2(KCNT1): c.2214G> A (p.Pro738=) single nucleotide variant Conflicting interpretations of pathogenicity rs142424896 GRCh37 Chromosome 9, 138664766: 138664766
40 KCNT1 NM_020822.2(KCNT1): c.2214G> A (p.Pro738=) single nucleotide variant Conflicting interpretations of pathogenicity rs142424896 GRCh38 Chromosome 9, 135772920: 135772920
41 KCNT1 NM_020822.2(KCNT1): c.2430C> T (p.Ala810=) single nucleotide variant Benign rs139114208 GRCh37 Chromosome 9, 138669264: 138669264
42 KCNT1 NM_020822.2(KCNT1): c.2430C> T (p.Ala810=) single nucleotide variant Benign rs139114208 GRCh38 Chromosome 9, 135777418: 135777418
43 KCNT1 NM_020822.2(KCNT1): c.2376C> T (p.Asp792=) single nucleotide variant Benign rs149028586 GRCh37 Chromosome 9, 138669210: 138669210
44 KCNT1 NM_020822.2(KCNT1): c.2376C> T (p.Asp792=) single nucleotide variant Benign rs149028586 GRCh38 Chromosome 9, 135777364: 135777364
45 KCNT1 NM_020822.2(KCNT1): c.2994G> A (p.Leu998=) single nucleotide variant Benign/Likely benign rs143198263 GRCh37 Chromosome 9, 138676431: 138676431
46 KCNT1 NM_020822.2(KCNT1): c.2994G> A (p.Leu998=) single nucleotide variant Benign/Likely benign rs143198263 GRCh38 Chromosome 9, 135784585: 135784585
47 KCNT1 NM_020822.2(KCNT1): c.333G> A (p.Ser111=) single nucleotide variant Benign/Likely benign rs56008253 GRCh37 Chromosome 9, 138642022: 138642022
48 KCNT1 NM_020822.2(KCNT1): c.333G> A (p.Ser111=) single nucleotide variant Benign/Likely benign rs56008253 GRCh38 Chromosome 9, 135750176: 135750176
49 KCNT1 NM_020822.2(KCNT1): c.408C> T (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs370046449 GRCh37 Chromosome 9, 138642861: 138642861
50 KCNT1 NM_020822.2(KCNT1): c.408C> T (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs370046449 GRCh38 Chromosome 9, 135751015: 135751015

Expression for Epilepsy, Nocturnal Frontal Lobe, 5

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Pathways for Epilepsy, Nocturnal Frontal Lobe, 5

GO Terms for Epilepsy, Nocturnal Frontal Lobe, 5

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