ENFL5
MCID: EPL096
MIFTS: 26

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

Articles related to Epilepsy, Nocturnal Frontal Lobe, 5:

# Title Authors Year
1
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. ( 24055112 )
2013
2
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. ( 23086396 )
2012
3
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. ( 18479385 )
2008

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 552)
# 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.2794T> A (p.Phe932Ile) single nucleotide variant Uncertain significance rs886044717 GRCh37 Chromosome 9, 138671269: 138671269
18 KCNT1 NM_020822.2(KCNT1): c.2794T> A (p.Phe932Ile) single nucleotide variant Uncertain significance rs886044717 GRCh38 Chromosome 9, 135779423: 135779423
19 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh37 Chromosome 9, 138651532: 138651532
20 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh38 Chromosome 9, 135759686: 135759686
21 KCNT1 NM_020822.2(KCNT1): c.116C> T (p.Pro39Leu) single nucleotide variant Benign rs201051863 GRCh37 Chromosome 9, 138606428: 138606428
22 KCNT1 NM_020822.2(KCNT1): c.116C> T (p.Pro39Leu) single nucleotide variant Benign rs201051863 GRCh38 Chromosome 9, 135714582: 135714582
23 KCNT1 NM_020822.2(KCNT1): c.1879A> G (p.Ile627Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143355299 GRCh37 Chromosome 9, 138662812: 138662812
24 KCNT1 NM_020822.2(KCNT1): c.1879A> G (p.Ile627Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143355299 GRCh38 Chromosome 9, 135770966: 135770966
25 KCNT1 NM_020822.2(KCNT1): c.2034C> T (p.Gly678=) single nucleotide variant Conflicting interpretations of pathogenicity rs369983077 GRCh37 Chromosome 9, 138664586: 138664586
26 KCNT1 NM_020822.2(KCNT1): c.2034C> T (p.Gly678=) single nucleotide variant Conflicting interpretations of pathogenicity rs369983077 GRCh38 Chromosome 9, 135772740: 135772740
27 KCNT1 NM_020822.2(KCNT1): c.2210C> T (p.Thr737Met) single nucleotide variant Benign rs61744696 GRCh37 Chromosome 9, 138664762: 138664762
28 KCNT1 NM_020822.2(KCNT1): c.2210C> T (p.Thr737Met) single nucleotide variant Benign rs61744696 GRCh38 Chromosome 9, 135772916: 135772916
29 KCNT1 NM_020822.2(KCNT1): c.2543A> G (p.Glu848Gly) single nucleotide variant Likely benign rs149804567 GRCh37 Chromosome 9, 138670290: 138670290
30 KCNT1 NM_020822.2(KCNT1): c.2543A> G (p.Glu848Gly) single nucleotide variant Likely benign rs149804567 GRCh38 Chromosome 9, 135778444: 135778444
31 KCNT1 NM_020822.2(KCNT1): c.2619C> T (p.Gly873=) single nucleotide variant Benign rs144659358 GRCh37 Chromosome 9, 138670558: 138670558
32 KCNT1 NM_020822.2(KCNT1): c.2619C> T (p.Gly873=) single nucleotide variant Benign rs144659358 GRCh38 Chromosome 9, 135778712: 135778712
33 KCNT1 NM_020822.2(KCNT1): c.2943+6C> T single nucleotide variant Benign/Likely benign rs28612938 GRCh37 Chromosome 9, 138675977: 138675977
34 KCNT1 NM_020822.2(KCNT1): c.2943+6C> T single nucleotide variant Benign/Likely benign rs28612938 GRCh38 Chromosome 9, 135784131: 135784131
35 KCNT1 NM_020822.2(KCNT1): c.3295C> T (p.Pro1099Ser) single nucleotide variant Benign/Likely benign rs200642629 GRCh37 Chromosome 9, 138678160: 138678160
36 KCNT1 NM_020822.2(KCNT1): c.3295C> T (p.Pro1099Ser) single nucleotide variant Benign/Likely benign rs200642629 GRCh38 Chromosome 9, 135786314: 135786314
37 KCNT1 NM_020822.2(KCNT1): c.3312G> A (p.Leu1104=) single nucleotide variant Benign rs149416418 GRCh37 Chromosome 9, 138678177: 138678177
38 KCNT1 NM_020822.2(KCNT1): c.3312G> A (p.Leu1104=) single nucleotide variant Benign rs149416418 GRCh38 Chromosome 9, 135786331: 135786331
39 KCNT1 NM_020822.2(KCNT1): c.3388G> A (p.Ala1130Thr) single nucleotide variant Benign/Likely benign rs138421850 GRCh37 Chromosome 9, 138678253: 138678253
40 KCNT1 NM_020822.2(KCNT1): c.3388G> A (p.Ala1130Thr) single nucleotide variant Benign/Likely benign rs138421850 GRCh38 Chromosome 9, 135786407: 135786407
41 KCNT1 NM_020822.2(KCNT1): c.3390G> A (p.Ala1130=) single nucleotide variant Benign rs77912754 GRCh37 Chromosome 9, 138678255: 138678255
42 KCNT1 NM_020822.2(KCNT1): c.3390G> A (p.Ala1130=) single nucleotide variant Benign rs77912754 GRCh38 Chromosome 9, 135786409: 135786409
43 KCNT1 NM_020822.2(KCNT1): c.59G> C (p.Gly20Ala) single nucleotide variant Benign/Likely benign rs146292575 GRCh37 Chromosome 9, 138594163: 138594163
44 KCNT1 NM_020822.2(KCNT1): c.59G> C (p.Gly20Ala) single nucleotide variant Benign/Likely benign rs146292575 GRCh38 Chromosome 9, 135702317: 135702317
45 KCNT1 NM_020822.2(KCNT1): c.711C> G (p.Pro237=) single nucleotide variant Benign rs117286274 GRCh37 Chromosome 9, 138649179: 138649179
46 KCNT1 NM_020822.2(KCNT1): c.711C> G (p.Pro237=) single nucleotide variant Benign rs117286274 GRCh38 Chromosome 9, 135757333: 135757333
47 KCNT1 NM_020822.2(KCNT1): c.978A> G (p.Pro326=) single nucleotide variant Benign rs61739517 GRCh37 Chromosome 9, 138651648: 138651648
48 KCNT1 NM_020822.2(KCNT1): c.978A> G (p.Pro326=) single nucleotide variant Benign rs61739517 GRCh38 Chromosome 9, 135759802: 135759802
49 KCNT1 NM_020822.2(KCNT1): c.2688G> A (p.Met896Ile) single nucleotide variant Pathogenic rs797044544 GRCh37 Chromosome 9, 138670627: 138670627
50 KCNT1 NM_020822.2(KCNT1): c.2688G> A (p.Met896Ile) single nucleotide variant Pathogenic rs797044544 GRCh38 Chromosome 9, 135778781: 135778781

Expression for Epilepsy, Nocturnal Frontal Lobe, 5

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GO Terms for Epilepsy, Nocturnal Frontal Lobe, 5

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