ENFL4
MCID: EPL204
MIFTS: 26

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 74
Epilepsy, Nocturnal Frontal Lobe, Type 4 57 29 13 6 72
Enfl4 57 12 74
Seizures, Benign Familial Infantile, 6 74 6
Epilepsy, Familial, with Nocturnal Wandering and Ictal Fear 57
Familial Epilepsy with Nocturnal Wandering and Ictal Fear 74
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4 12
Convulsions, Benign Familial Infantile, 6 74
Epilepsy, Frontal Lobe, Nocturnal, Type 4 40
Nocturnal Frontal Lobe Epilepsy 4 12
Bfic6 74
Bfis6 74

Characteristics:

OMIM:

57
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:

32
epilepsy, nocturnal frontal lobe, 4:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060685
UMLS 72 C1835905

Summaries for Epilepsy, Nocturnal Frontal Lobe, 4

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)

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 seizures and behavioral abnormality

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

UniProtKB/Swiss-Prot : 74 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

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 10.3
2 epilepsy 10.3
3 focal epilepsy 10.3

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 4

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 behavioral abnormality 32 HP:0000708
3 dystonia 32 HP:0001332
4 confusion 32 HP:0001289
5 shivering 32 HP:0025144

Symptoms via clinical synopsis from OMIM:

57
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 29 CHRNA2

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 4

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

41
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. 38 8 71
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. 8 71
25847220 2015
3
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. 8 71
25770198 2015
4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 71
20301348 2002

Variations for Epilepsy, Nocturnal Frontal Lobe, 4

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHRNA2 NM_000742.4(CHRNA2): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs1018084204 8:27320834-27320834 8:27463317-27463317
2 CHRNA2 NM_000742.4(CHRNA2): c.889A> T (p.Ile297Phe) single nucleotide variant Pathogenic rs1554514507 8:27321071-27321071 8:27463554-27463554
3 CHRNA2 NM_000742.4(CHRNA2): c.836T> A (p.Ile279Asn) single nucleotide variant Pathogenic rs104894063 8:27321124-27321124 8:27463607-27463607
4 CHRNA2 NM_000742.4(CHRNA2): c.1434C> A (p.Asp478Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs56344740 8:27320526-27320526 8:27463009-27463009
5 CHRNA2 NM_000742.4(CHRNA2): c.140C> T (p.Thr47Met) single nucleotide variant Conflicting interpretations of pathogenicity rs74772771 8:27327432-27327432 8:27469915-27469915
6 CHRNA2 NM_000742.4(CHRNA2): c.1105dup (p.Ala369fs) duplication Uncertain significance 8:27320855-27320855 8:27463338-27463338
7 CHRNA2 NM_000742.4(CHRNA2): c.1418T> G (p.Val473Gly) single nucleotide variant Uncertain significance 8:27320542-27320542 8:27463025-27463025
8 CHRNA2 NM_000742.4(CHRNA2): c.959C> A (p.Ser320Tyr) single nucleotide variant Uncertain significance 8:27321001-27321001 8:27463484-27463484
9 CHRNA2 NM_000742.4(CHRNA2): c.1073G> T (p.Ser358Ile) single nucleotide variant Uncertain significance rs74341575 8:27320887-27320887 8:27463370-27463370
10 CHRNA2 NM_000742.4(CHRNA2): c.1516T> A (p.Trp506Arg) single nucleotide variant Uncertain significance rs1012797739 8:27319220-27319220 8:27461703-27461703

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

74
# 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

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