Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Eig9
Description
For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}. Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy; see {254770} for a general phenotypic description and a discussion of genetic heterogeneity of JME.
Genes related to Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Eig9
- CACNB4
Clinical Features
Phenotypes and symptoms related to Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Eig9
- Seizures
- Myoclonus
- Generalized tonic-clonic seizures
- Absence seizures
- Loss of consciousness
- EEG with polyspike wave complexes
- Morning myoclonic jerks
- Generalized tonic-clonic seizures on awakening
- Typical absence seizures
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.
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, Idiopathic Generalized, Susceptibility To, 9; Eig9 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Episodic Ataxia Evaluation.
By Athena Diagnostics Inc (United States).
SLC1A3, CACNA1A, CACNB4, KCNA1
Specificity
25 %
Genes
100 % |
Ataxia, Comprehensive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
Ataxia, Supplemental Dominant Evaluation.
By Athena Diagnostics Inc (United States).
SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG
Specificity
7 %
Genes
100 % |
Ataxia, Complete Dominant Evaluation.
By Athena Diagnostics Inc (United States).
ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
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 % |
You can get up to 57 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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