Disease #00353 (DRVT (Dravet syndrome), OMIM:607208)

Official abbreviation DRVT
Name Dravet syndrome
OMIM ID 607208
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 33
Phenotype entries for this disease 31
Associated with 1 gene SCN1A
Associated tissues -
Disease features short stature; microcephaly; neurological abnormalities; seizures; 1y-onset seizures; seizure triggered by fever; psychomotor development stagnates; stagnates.; mental decline; behavioral problems; learning disabilities; MRI global brain atrophy; EEG irregular generalized spike and wave complexes; microcephaly; ataxia; limited knee extension; muscle weakness; dysgenesis hippocampus
Remarks -
Date created 2014-03-14 16:15:34 +01:00 (CET)
Date last edited 2023-01-10 16:00:58 +01:00 (CET)


Individuals

33 entries on 1 page. Showing entries 1 - 33.
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00016320 - - - M no Italy - - - - - DRVT - POLG, SCN1A POLG, SCN1A 2 1 Lab Zuffardi
00080862 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - DRVT Dravet syndrome (OMIM:607208) SCN1A SCN1A 1 1 Daniel Trujillano
00081069 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - DRVT Dravet syndrome (PMID:19710327) SCN1B SCN1B 1 1 Daniel Trujillano
00152089 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152090 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152091 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152092 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152093 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152094 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152095 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152096 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152097 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152098 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152099 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152100 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152101 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152102 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00152103 - PubMed: Singh 2009 - - - - - - - - - DRVT - SCN9A SCN9A 1 1 Christoph Lossin
00210710 30526861-Fam1Pat1 PubMed: Carvill 2018 4-generation family, 10 affected (3F, 7M) M - - - - - - - DRVT see paper; … SCN1A SCN1A 1 10 Johan den Dunnen
00210711 30526861-Fam2Pat2 PubMed: Carvill 2018 3-generation family, 1 affected F - - - - - - - DRVT see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00210712 30526861-Pat3 PubMed: Carvill 2018 2-generation family, 1 affected M - - - - - - - DRVT see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00210713 30526861-Pat4 PubMed: Carvill 2018 2-generation family, 1 affected F - - - - - - - DRVT see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00210714 30526861-Pat5 PubMed: Carvill 2018 3-generation family, 3 affected (3F) F - - - - - - - DRVT see paper; … SCN1A SCN1A 1 3 Johan den Dunnen
00210715 30526861-Pat6 PubMed: Carvill 2018 - M - - - - - - - DRVT see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00210716 30526861-Pat7 PubMed: Carvill 2018 - F - - - - - - - DRVT see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00317970 171044 - - M ? Germany - - - - - DRVT Febrile seizure (within the age range of 3 months to 6 years); Generalized-onset seizure SCN1A SCN1A 1 1 Andreas Laner
00388292 Pat1 PubMed: Jaber 2021 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - DRVT see paper; ... - SCN1A 1 1 Johan den Dunnen
00388293 Pat2 PubMed: Jaber 2021 2-generation family, affected male fetus, unaffected non-carrier parents M - France - - - - - DRVT see paper; ... - SCN1A 1 1 Johan den Dunnen
00388294 Pat3 PubMed: Jaber 2021 2-generation family, affected male fetus, unaffected non-carrier parents M - France - - - - - DRVT see paper; ... - SCN1A 1 1 Johan den Dunnen
00391860 018P - - M no Spain - - - - - DRVT, GEFSP2;FEB3A - - SCN1A 1 1 Alejandro Brea-Fernández
00401644 226p - - M no Spain - - - - - DRVT, ID - - SCN1A 1 1 Alejandro Brea-Fernández
00458547 309026 - - F no Germany - - - - - DRVT Seizure, Febrile seizure outside the age of 3 months to 6 years, Neurodevelopmental delay, Motor delay, Delayed speech and language development, Hypotonia, Abnormal brain morphology, Poor gross motor coordination, Sleep abnormality SCN1A SCN1A 1 1 Andreas Laner
00465969 142169 - - M no Germany - - - - - DRVT HPO: Seizure; Seizures since the 7th month of life, a variety of medications tried, no seizure relief achieved SCN1A SCN1A 1 1 Andreas Laner
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