Disease #00353

Official abbreviation EIEE-6
Name encephalopathy, epileptic, early infantile, type 6 (EIEE-6, Dravet syndrome)
OMIM ID 607208
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 25
Phenotype entries for this disease 25
Associated with 2 genes SCN1A, SCN9A
Associated tissues -
Disease features -
Remarks -


Individuals

25 entries on 1 page. Showing entries 1 - 25.
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00016320 - - - M no Italy - - 0 - - EIEE-6 - POLG, SCN1A POLG, SCN1A 2 1 Lab Zuffardi
00080862 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - EIEE-6 Dravet syndrome (OMIM:607208) SCN1A SCN1A 1 1 Daniel Trujillano
00081069 - Trujillano et al., submitted unaffected parents - - - - - 0 - - EIEE-6 Dravet syndrome (PMID:19710327) SCN1B SCN1B 1 1 Daniel Trujillano
00152089 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152090 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152091 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152092 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152093 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152094 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152095 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152096 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152097 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152098 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152099 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152100 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152101 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152102 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00152103 - PubMed: Singh 2009 - - - - - - 0 - - EIEE-6 - SCN9A SCN9A 1 1 Christoph Lossin
00210710 30526861-Fam1Pat1 PubMed: Carvill 2018 4-generation family, 10 affected (3F, 7M) M - - - - 0 - - EIEE-6 see paper; … SCN1A SCN1A 1 10 Johan den Dunnen
00210711 30526861-Fam2Pat2 PubMed: Carvill 2018 3-generation family, 1 affected F - - - - 0 - - EIEE-6 see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00210712 30526861-Pat3 PubMed: Carvill 2018 2-generation family, 1 affected M - - - - 0 - - EIEE-6 see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00210713 30526861-Pat4 PubMed: Carvill 2018 2-generation family, 1 affected F - - - - 0 - - EIEE-6 see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00210714 30526861-Pat5 PubMed: Carvill 2018 3-generation family, 3 affected (3F) F - - - - 0 - - EIEE-6 see paper; … SCN1A SCN1A 1 3 Johan den Dunnen
00210715 30526861-Pat6 PubMed: Carvill 2018 - M - - - - 0 - - EIEE-6 see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
00210716 30526861-Pat7 PubMed: Carvill 2018 - F - - - - 0 - - EIEE-6 see paper; … SCN1A SCN1A 1 1 Johan den Dunnen
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