Disease #00183 (EIEE-7 (encephalopathy, epileptic, early infantile, type 7 (EIEE-7)), OMIM:613720)

Official abbreviation EIEE-7
Name encephalopathy, epileptic, early infantile, type 7 (EIEE-7)
OMIM ID 613720
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene KCNQ2
Associated tissues -
Disease features -
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Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00054788 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 10 NeuroMeGen
00054821 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054822 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054823 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054824 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054825 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054826 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054827 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054828 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00054829 - - - - - - - - 0 - - EIEE-7 - KCNQ2 KCNQ2 1 1 NeuroMeGen
00080837 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EIEE-7 Epileptic encephalopathy, early infantile, 7 (OMIM:613720) KCNQ2 KCNQ2 1 1 Daniel Trujillano
00092271 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - EIEE-7 profound IDD, epileptic encephalopathy, hypotonia, dysautonomia, microcephaly; CSF GABA free 0.007 umol/L (reference range: 0.017- 0.067) CSF GABA total 4.300 umol/L (reference range: 4.2-13.4) low CSF GABA, mitochondrial complex I and II deficiency KCNQ2 - 0 1 Johan den Dunnen
00111406 S_106 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - 0 - - EIEE-7 Developmental delay, hypotonia, seizures during first year of life KCNQ2 KCNQ2 1 1 Bernt Popp
00361907 - - - - - - - - - - - BMD, EIEE-7 Developmental delay, seizures, hypotonia, microcephaly - KCNQ2 1 1 Anju Shukla
00362203 155496 - - F ? Italy - - 0 - - EIEE-7 Epileptic encephalopathy with neonatal seizures from day 1, suspected Otahara syndrome, severe combined developmental delay, marked muscular hypotonia KCNQ2 KCNQ2 1 1 Andreas Laner
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