ENFL4
MCID: EPL204
MIFTS: 28

Epilepsy, Nocturnal Frontal Lobe, 4 (ENFL4)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Nocturnal Frontal Lobe, 4

MalaCards integrated aliases for Epilepsy, Nocturnal Frontal Lobe, 4:

Name: Epilepsy, Nocturnal Frontal Lobe, 4 57 72
Epilepsy, Nocturnal Frontal Lobe, Type 4 57 29 13 6 70
Enfl4 57 12 72
Seizures, Benign Familial Infantile, 6 72 6
Epilepsy, Familial, with Nocturnal Wandering and Ictal Fear 57
Familial Epilepsy with Nocturnal Wandering and Ictal Fear 72
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4 12
Convulsions, Benign Familial Infantile, 6 72
Epilepsy, Frontal Lobe, Nocturnal, Type 4 39
Nocturnal Frontal Lobe Epilepsy 4 12
Bfic6 72
Bfis6 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
onset in childhood (mean age 10 years)
may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders (in some patients)
favorable response to antiepileptic medication
frequency and severity of seizures tends to decrease with age

Inheritance:
autosomal dominant


HPO:

31
epilepsy, nocturnal frontal lobe, 4:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060685
OMIM® 57 610353
OMIM Phenotypic Series 57 PS600513 PS601764
UMLS 70 C1835905

Summaries for Epilepsy, Nocturnal Frontal Lobe, 4

UniProtKB/Swiss-Prot : 72 Epilepsy, nocturnal frontal lobe, 4: An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking.
Seizures, benign familial infantile, 6: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS6 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Nocturnal Frontal Lobe, 4, also known as epilepsy, nocturnal frontal lobe, type 4, is related to autosomal dominant nocturnal frontal lobe epilepsy and epilepsy, and has symptoms including has tingling sensation An important gene associated with Epilepsy, Nocturnal Frontal Lobe, 4 is CHRNA2 (Cholinergic Receptor Nicotinic Alpha 2 Subunit). Affiliated tissues include tongue, and related phenotypes are behavioral abnormality and dystonia

Disease Ontology : 12 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.

OMIM® : 57 Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) (Trivisano et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (600513). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). (610353) (Updated 20-May-2021)

Related Diseases for Epilepsy, Nocturnal Frontal Lobe, 4

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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant nocturnal frontal lobe epilepsy 10.4
2 epilepsy 10.4
3 focal epilepsy 10.4

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 4

Human phenotypes related to Epilepsy, Nocturnal Frontal Lobe, 4:

31
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 31 HP:0000708
2 dystonia 31 HP:0001332
3 confusion 31 HP:0001289
4 shivering 31 HP:0025144
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
normal psychomotor development
seizures, nocturnal, usually occur in clusters
day time seizures may also occur
sudden awakening
unintelligible speech, vocalizations, grunting
more

Clinical features from OMIM®:

610353 (Updated 20-May-2021)

UMLS symptoms related to Epilepsy, Nocturnal Frontal Lobe, 4:


has tingling sensation

Drugs & Therapeutics for Epilepsy, Nocturnal Frontal Lobe, 4

Search Clinical Trials , NIH Clinical Center for Epilepsy, Nocturnal Frontal Lobe, 4

Genetic Tests for Epilepsy, Nocturnal Frontal Lobe, 4

Genetic tests related to Epilepsy, Nocturnal Frontal Lobe, 4:

# Genetic test Affiliating Genes
1 Epilepsy, Nocturnal Frontal Lobe, Type 4 29 CHRNA2

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 4

MalaCards organs/tissues related to Epilepsy, Nocturnal Frontal Lobe, 4:

40
Tongue

Publications for Epilepsy, Nocturnal Frontal Lobe, 4

Articles related to Epilepsy, Nocturnal Frontal Lobe, 4:

# Title Authors PMID Year
1
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 61 57 6
16826524 2006
2
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy. 6 57
25847220 2015
3
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. 57 6
25770198 2015

Variations for Epilepsy, Nocturnal Frontal Lobe, 4

ClinVar genetic disease variations for Epilepsy, Nocturnal Frontal Lobe, 4:

6 (show top 50) (show all 113)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNA2 NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) SNV Pathogenic 17504 rs104894063 GRCh37: 8:27321124-27321124
GRCh38: 8:27463607-27463607
2 CHRNA2 NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) SNV Pathogenic 522582 rs1554514507 GRCh37: 8:27321071-27321071
GRCh38: 8:27463554-27463554
3 CHRNA2 NM_000742.4(CHRNA2):c.900C>A (p.Cys300Ter) SNV Pathogenic 997592 GRCh37: 8:27321060-27321060
GRCh38: 8:27463543-27463543
4 CHRNA2 NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp) SNV Pathogenic 522581 rs1018084204 GRCh37: 8:27320834-27320834
GRCh38: 8:27463317-27463317
5 CHRNA2 NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe) SNV Likely pathogenic 282149 GRCh37: 8:27321023-27321023
GRCh38: 8:27463506-27463506
6 CHRNA2 NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) SNV Conflicting interpretations of pathogenicity 136753 rs56344740 GRCh37: 8:27320526-27320526
GRCh38: 8:27463009-27463009
7 CHRNA2 NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) SNV Conflicting interpretations of pathogenicity 204979 rs74772771 GRCh37: 8:27327432-27327432
GRCh38: 8:27469915-27469915
8 CHRNA2 NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe) SNV Uncertain significance 800756 rs994299183 GRCh37: 8:27320500-27320500
GRCh38: 8:27462983-27462983
9 CHRNA2 NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) SNV Uncertain significance 204993 rs201922955 GRCh37: 8:27327357-27327357
GRCh38: 8:27469840-27469840
10 CHRNA2 NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter) SNV Uncertain significance 641342 rs778197366 GRCh37: 8:27320606-27320606
GRCh38: 8:27463089-27463089
11 CHRNA2 NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) SNV Uncertain significance 543534 rs1012797739 GRCh37: 8:27319220-27319220
GRCh38: 8:27461703-27461703
12 CHRNA2 NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) SNV Uncertain significance 204968 rs74341575 GRCh37: 8:27320887-27320887
GRCh38: 8:27463370-27463370
13 CHRNA2 NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) SNV Uncertain significance 625918 rs150254933 GRCh37: 8:27320542-27320542
GRCh38: 8:27463025-27463025
14 CHRNA2 NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu) SNV Uncertain significance 204969 rs796052301 GRCh37: 8:27320876-27320876
GRCh38: 8:27463359-27463359
15 CHRNA2 NM_000742.4(CHRNA2):c.-136-14T>C SNV Uncertain significance 362702 rs886062847 GRCh37: 8:27328725-27328725
GRCh38: 8:27471208-27471208
16 CHRNA2 NM_000742.4(CHRNA2):c.1464+4C>T SNV Uncertain significance 911932 GRCh37: 8:27320492-27320492
GRCh38: 8:27462975-27462975
17 CHRNA2 NM_000742.4(CHRNA2):c.1318G>A (p.Gly440Ser) SNV Uncertain significance 911933 GRCh37: 8:27320642-27320642
GRCh38: 8:27463125-27463125
18 CHRNA2 NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter) SNV Uncertain significance 1030885 GRCh37: 8:27319258-27319258
GRCh38: 8:27461741-27461741
19 CHRNA2 NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) SNV Uncertain significance 627592 rs760884840 GRCh37: 8:27321001-27321001
GRCh38: 8:27463484-27463484
20 CHRNA2 NM_000742.4(CHRNA2):c.*1845A>T SNV Uncertain significance 362663 rs377169301 GRCh37: 8:27317301-27317301
GRCh38: 8:27459784-27459784
21 CHRNA2 NM_000742.4(CHRNA2):c.339+10C>A SNV Uncertain significance 362696 rs746630071 GRCh37: 8:27326842-27326842
GRCh38: 8:27469325-27469325
22 CHRNA2 NM_000742.4(CHRNA2):c.-537C>T SNV Uncertain significance 362711 rs564405421 GRCh37: 8:27336741-27336741
GRCh38: 8:27479224-27479224
23 CHRNA2 NM_000742.4(CHRNA2):c.*1395C>A SNV Uncertain significance 362669 rs886062841 GRCh37: 8:27317751-27317751
GRCh38: 8:27460234-27460234
24 CHRNA2 NM_000742.4(CHRNA2):c.-565T>A SNV Uncertain significance 362717 rs879442926 GRCh37: 8:27336769-27336769
GRCh38: 8:27479252-27479252
25 CHRNA2 NM_000742.4(CHRNA2):c.1163A>G (p.Glu388Gly) SNV Uncertain significance 362694 rs886062844 GRCh37: 8:27320797-27320797
GRCh38: 8:27463280-27463280
26 CHRNA2 NM_000742.4(CHRNA2):c.-78C>G SNV Uncertain significance 362700 rs886062845 GRCh37: 8:27328653-27328653
GRCh38: 8:27471136-27471136
27 CHRNA2 NM_000742.4(CHRNA2):c.*997C>G SNV Uncertain significance 362678 rs539161001 GRCh37: 8:27318149-27318149
GRCh38: 8:27460632-27460632
28 CHRNA2 NM_000742.4(CHRNA2):c.260G>A (p.Arg87His) SNV Uncertain significance 362697 rs532212433 GRCh37: 8:27327312-27327312
GRCh38: 8:27469795-27469795
29 CHRNA2 NM_000742.4(CHRNA2):c.-544C>T SNV Uncertain significance 362712 rs886062851 GRCh37: 8:27336748-27336748
GRCh38: 8:27479231-27479231
30 CHRNA2 NM_000742.4(CHRNA2):c.-137+11T>C SNV Uncertain significance 362703 rs886062848 GRCh37: 8:27336330-27336330
GRCh38: 8:27478813-27478813
31 CHRNA2 NM_000742.4(CHRNA2):c.*479G>C SNV Uncertain significance 362687 rs574004327 GRCh37: 8:27318667-27318667
GRCh38: 8:27461150-27461150
32 CHRNA2 NM_000742.4(CHRNA2):c.-312G>T SNV Uncertain significance 362704 rs886062849 GRCh37: 8:27336516-27336516
GRCh38: 8:27478999-27478999
33 CHRNA2 NM_000742.4(CHRNA2):c.-471G>A SNV Uncertain significance 362710 rs886062850 GRCh37: 8:27336675-27336675
GRCh38: 8:27479158-27479158
34 CHRNA2 NM_000742.4(CHRNA2):c.*1096C>G SNV Uncertain significance 362674 rs886062842 GRCh37: 8:27318050-27318050
GRCh38: 8:27460533-27460533
35 CHRNA2 NM_000742.4(CHRNA2):c.*386G>T SNV Uncertain significance 362688 rs542172546 GRCh37: 8:27318760-27318760
GRCh38: 8:27461243-27461243
36 CHRNA2 NM_000742.4(CHRNA2):c.203G>C (p.Arg68Pro) SNV Uncertain significance 362698 rs548268816 GRCh37: 8:27327369-27327369
GRCh38: 8:27469852-27469852
37 CHRNA2 NM_000742.4(CHRNA2):c.-133C>T SNV Uncertain significance 362701 rs886062846 GRCh37: 8:27328708-27328708
GRCh38: 8:27471191-27471191
38 CHRNA2 NM_000742.4(CHRNA2):c.*892T>A SNV Uncertain significance 362680 rs886062843 GRCh37: 8:27318254-27318254
GRCh38: 8:27460737-27460737
39 CHRNA2 NM_000742.4(CHRNA2):c.*1090C>T SNV Uncertain significance 908947 GRCh37: 8:27318056-27318056
GRCh38: 8:27460539-27460539
40 CHRNA2 NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val) SNV Uncertain significance 909008 GRCh37: 8:27320857-27320857
GRCh38: 8:27463340-27463340
41 CHRNA2 NM_000742.4(CHRNA2):c.1000T>C (p.Phe334Leu) SNV Uncertain significance 909009 GRCh37: 8:27320960-27320960
GRCh38: 8:27463443-27463443
42 CHRNA2 NM_000742.4(CHRNA2):c.957G>A (p.Pro319=) SNV Uncertain significance 909010 GRCh37: 8:27321003-27321003
GRCh38: 8:27463486-27463486
43 CHRNA2 NM_000742.4(CHRNA2):c.*1775C>T SNV Uncertain significance 909740 GRCh37: 8:27317371-27317371
GRCh38: 8:27459854-27459854
44 CHRNA2 NM_000742.4(CHRNA2):c.*1769C>G SNV Uncertain significance 909741 GRCh37: 8:27317377-27317377
GRCh38: 8:27459860-27459860
45 CHRNA2 NM_000742.4(CHRNA2):c.*662T>C SNV Uncertain significance 909808 GRCh37: 8:27318484-27318484
GRCh38: 8:27460967-27460967
46 CHRNA2 NM_000742.4(CHRNA2):c.500C>T (p.Ser167Phe) SNV Uncertain significance 909873 GRCh37: 8:27321460-27321460
GRCh38: 8:27463943-27463943
47 CHRNA2 NM_000742.4(CHRNA2):c.430G>A (p.Asp144Asn) SNV Uncertain significance 909874 GRCh37: 8:27324765-27324765
GRCh38: 8:27467248-27467248
48 CHRNA2 NM_000742.4(CHRNA2):c.*1752G>A SNV Uncertain significance 910653 GRCh37: 8:27317394-27317394
GRCh38: 8:27459877-27459877
49 CHRNA2 NM_000742.4(CHRNA2):c.*1707C>T SNV Uncertain significance 910654 GRCh37: 8:27317439-27317439
GRCh38: 8:27459922-27459922
50 CHRNA2 NM_000742.4(CHRNA2):c.*1707C>G SNV Uncertain significance 910655 GRCh37: 8:27317439-27317439
GRCh38: 8:27459922-27459922

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Nocturnal Frontal Lobe, 4:

72
# Symbol AA change Variation ID SNP ID
1 CHRNA2 p.Ile279Asn VAR_027641 rs104894063

Expression for Epilepsy, Nocturnal Frontal Lobe, 4

Search GEO for disease gene expression data for Epilepsy, Nocturnal Frontal Lobe, 4.

Pathways for Epilepsy, Nocturnal Frontal Lobe, 4

GO Terms for Epilepsy, Nocturnal Frontal Lobe, 4

Sources for Epilepsy, Nocturnal Frontal Lobe, 4

3 CDC
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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