ENFL4
MCID: EPL204
MIFTS: 25

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 58 76
Epilepsy, Nocturnal Frontal Lobe, Type 4 58 30 13 6 74
Seizures, Benign Familial Infantile, 6 76 6
Enfl4 58 76
Epilepsy, Familial, with Nocturnal Wandering and Ictal Fear 58
Familial Epilepsy with Nocturnal Wandering and Ictal Fear 76
Convulsions, Benign Familial Infantile, 6 76
Bfic6 76
Bfis6 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epilepsy, nocturnal frontal lobe, 4:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Nocturnal Frontal Lobe, 4

OMIM : 58 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)

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 4 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 seizures and behavioral abnormality

UniProtKB/Swiss-Prot : 76 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.

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 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4

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 4 11.1
2 epilepsy 10.3

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 4

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

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 behavioral abnormality 33 HP:0000708
3 dystonia 33 HP:0001332
4 confusion 33 HP:0001289
5 shivering 33 HP:0025144

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CHRNA2

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 4

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

42
Tongue

Publications for Epilepsy, Nocturnal Frontal Lobe, 4

Articles related to Epilepsy, Nocturnal Frontal Lobe, 4:

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

Variations for Epilepsy, Nocturnal Frontal Lobe, 4

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

76
# Symbol AA change Variation ID SNP ID
1 CHRNA2 p.Ile279Asn VAR_027641 rs104894063

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNA2 NM_000742.3(CHRNA2): c.836T> A (p.Ile279Asn) single nucleotide variant Pathogenic rs104894063 GRCh37 Chromosome 8, 27321124: 27321124
2 CHRNA2 NM_000742.3(CHRNA2): c.836T> A (p.Ile279Asn) single nucleotide variant Pathogenic rs104894063 GRCh38 Chromosome 8, 27463607: 27463607
3 CHRNA2 NM_000742.3(CHRNA2): c.1434C> A (p.Asp478Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs56344740 GRCh37 Chromosome 8, 27320526: 27320526
4 CHRNA2 NM_000742.3(CHRNA2): c.1434C> A (p.Asp478Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs56344740 GRCh38 Chromosome 8, 27463009: 27463009
5 CHRNA2 NM_000742.3(CHRNA2): c.1073G> T (p.Ser358Ile) single nucleotide variant Uncertain significance rs74341575 GRCh37 Chromosome 8, 27320887: 27320887
6 CHRNA2 NM_000742.3(CHRNA2): c.1073G> T (p.Ser358Ile) single nucleotide variant Uncertain significance rs74341575 GRCh38 Chromosome 8, 27463370: 27463370
7 CHRNA2 NM_000742.3(CHRNA2): c.140C> T (p.Thr47Met) single nucleotide variant Conflicting interpretations of pathogenicity rs74772771 GRCh38 Chromosome 8, 27469915: 27469915
8 CHRNA2 NM_000742.3(CHRNA2): c.140C> T (p.Thr47Met) single nucleotide variant Conflicting interpretations of pathogenicity rs74772771 GRCh37 Chromosome 8, 27327432: 27327432
9 CHRNA2 NM_000742.3(CHRNA2): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs1018084204 GRCh37 Chromosome 8, 27320834: 27320834
10 CHRNA2 NM_000742.3(CHRNA2): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs1018084204 GRCh38 Chromosome 8, 27463317: 27463317
11 CHRNA2 NM_000742.3(CHRNA2): c.889A> T (p.Ile297Phe) single nucleotide variant Pathogenic rs1554514507 GRCh37 Chromosome 8, 27321071: 27321071
12 CHRNA2 NM_000742.3(CHRNA2): c.889A> T (p.Ile297Phe) single nucleotide variant Pathogenic rs1554514507 GRCh38 Chromosome 8, 27463554: 27463554
13 CHRNA2 NM_000742.3(CHRNA2): c.1516T> A (p.Trp506Arg) single nucleotide variant Uncertain significance rs1012797739 GRCh37 Chromosome 8, 27319220: 27319220
14 CHRNA2 NM_000742.3(CHRNA2): c.1516T> A (p.Trp506Arg) single nucleotide variant Uncertain significance rs1012797739 GRCh38 Chromosome 8, 27461703: 27461703
15 CHRNA2 NM_000742.4(CHRNA2): c.1418T> G (p.Val473Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 27320542: 27320542
16 CHRNA2 NM_000742.4(CHRNA2): c.1418T> G (p.Val473Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 27463025: 27463025
17 CHRNA2 NM_000742.4(CHRNA2): c.959C> A (p.Ser320Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 27463484: 27463484
18 CHRNA2 NM_000742.4(CHRNA2): c.959C> A (p.Ser320Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 27321001: 27321001

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

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