Details of Disease

General Information of Disease (ID: DISM4LMK)

Disease Name Obsolete Dravet syndrome
Definition
OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.|This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DISM4LMK: Obsolete Dravet syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GABRA1 TT1MPAY Supportive Autosomal dominant [1]
GABRG2 TT06RH5 Supportive Autosomal dominant [2]
SCN2A TTLJTUF Supportive Autosomal dominant [3]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN1A DTN0M1I Supportive Autosomal dominant [4]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GABRA1 OTC2W96H Supportive Autosomal dominant [1]
GABRG2 OTGNDWUO Supportive Autosomal dominant [2]
PCDH19 OTSOW3MV Supportive Autosomal dominant [5]
SCN1A OTJ9ZTYI Supportive Autosomal dominant [4]
SCN1B OTGD78J3 Supportive Autosomal dominant [6]
SCN2A OTUSYE4Z Supportive Autosomal dominant [3]
STXBP1 OTRYA8C3 Supportive Autosomal dominant [1]
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⏷ Show the Full List of 7 DOT(s)

References

1 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12.
2 Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet. 2002 Feb;70(2):530-6. doi: 10.1086/338710. Epub 2001 Dec 17.
3 Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev. 2009 Nov;31(10):758-62. doi: 10.1016/j.braindev.2009.08.009. Epub 2009 Sep 23.
4 SCN1A Seizure Disorders. 2007 Nov 29 [updated 2022 Feb 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
5 Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13.
6 A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci. 2009 Aug 26;29(34):10764-78. doi: 10.1523/JNEUROSCI.2475-09.2009.