Epilepsy, Nocturnal Frontal Lobe, 4; Enfl4
Description
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 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).
Clinical Features
Phenotypes and symptoms related to Epilepsy, Nocturnal Frontal Lobe, 4; Enfl4
- Seizures
- Generalized hypotonia
- Behavioral abnormality
- Dystonia
- Myoclonus
- EEG abnormality
- Confusion
- Cyanosis
- Shivering
- Somnambulism
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Epilepsy, Nocturnal Frontal Lobe, 4; Enfl4 Is also known as epilepsy, familial, with nocturnal wandering and ictal fear.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Epilepsy, Nocturnal Frontal Lobe, 4; Enfl4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)
View the complete list with 64 more genes
Specificity
2 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
NGS Epilepsy/Seizure Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
Childhood Epilepsy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, CDKL5, SYN1, UBE3A, CNTNAP2, CACNB4, ZEB2, EFHC1, PRICKLE1, MAGI2, CHRNA2, CHRNA4, CHRNB2, MBD5, TPP1, CLN3 , (...)
View the complete list with 27 more genes
Specificity
3 %
Genes
100 % |
Epilepsy/Seizure.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)
View the complete list with 78 more genes
Specificity
2 %
Genes
100 % |
Comprehensive Epilepsy Panel.
By GeneDx (United States).
SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, SPTAN1, CDKL5, STXBP1, SYN1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CACNB4, PCDH19, ZEB2, DNAJC5, EFHC1 , (...)
View the complete list with 50 more genes
Specificity
2 %
Genes
100 % |
Childhood-Onset Epilepsy Panel.
By GeneDx (United States).
SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, CDKL5, SYN1, TCF4, UBE3A, CNTNAP2, CACNB4, PCDH19, ZEB2, EFHC1, PRICKLE1, MAGI2, CHRNA2, CHRNA4, CHRNA7, CHRNB2 , (...)
View the complete list with 30 more genes
Specificity
2 %
Genes
100 % |
CustomNext: Neuro.
By Ambry Genetics (United States).
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)
View the complete list with 176 more genes
Specificity
1 %
Genes
100 % |
You can get up to 44 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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