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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAbsence epilepsy, atypical; differential diagnosis

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Summary

Short information

A panel comprising 1 guideline-curated or altogether 15 curated genes for the most frequent monogenic forms of atypic absence epilepsies

ID
AP7223
Number of genes
8 Accredited laboratory test
Examined sequence length
13,2 kb (Core-/Core-canditate-Genes)
18,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ALDH5A11608NM_001080.3AR
EPM2A996NM_005670.4AR
NHLRC11188NM_198586.3AR
SCN1A6030NM_001165963.4AD
SLC2A11479
  • No OMIM-Gs linked
NM_006516.4AD, AR
STXBP11812NM_003165.6AD
CACNA2D23438NM_001005505.3AR
DYRK1A2292NM_001396.5AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_AP7223

 

Synonyms
  • Allelic: Dravet syndrome (SCN1A)
  • Allelic: Dystonia 9 (SLC2A1)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Febrile seizures, familial, 3A (SCN1A)
  • Allelic: Febrile seizures, familial, 8 (GABRG2)
  • Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
  • Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Cerebellar atrophy with seizures + variable developmental delay (CACNA2D2)
  • D-2-hydroxyglutaric aciduria (D2HGDH)
  • Developmental + epileptic encephalopathy 19 (GABRA1)
  • Developmental + epileptic encephalopathy 4 (STXBP1)
  • Developmental + epileptic encephalopathy 43 (GABRB3)
  • Developmental + epileptic encephalopathy 74 (GABRG2)
  • Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
  • Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
  • Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
  • Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
  • Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Generalized epilepsy with febrile seizures plus, type 3 (GABRG2)
  • Mental retardation, AD 7 (DYRK1A)
  • Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined