Disease #04070

Official abbreviation EIEE-19
Name encephalopathy, epileptic, early infantile, type 19 (EIEE-19)
OMIM ID 615744
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 12
Phenotype entries for this disease 11
Associated with 1 gene GABRA1
Associated tissues -
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Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00074449 - PubMed: Kodera 2016, Journal: Kodera 2016 - M no (Japan) - - 0 - - EIEE-19 4y old male with infantile epilepsy. GABRA1 GABRA1 1 1 Bernt Popp
00074450 - PubMed: Carvill 2014, Journal: Carvill 2014 - F no ? (unknown) - - 0 - - EIEE-19 7y old female patient with seizures and moderate ID. GABRA1 GABRA1 1 1 Bernt Popp
00074451 - PubMed: Carvill 2014, Journal: Carvill 2014 - M no ? (unknown) - - 0 - - EIEE-19 18 months old male with seizures staring with 11 months and moderate ID. Calcified subependymal nodule in left lateral ventricle. GABRA1 GABRA1 1 1 Bernt Popp
00074452 - PubMed: Carvill 2014, Journal: Carvill 2014 - F no ? (unknown) - - 0 - - EIEE-19 2y old female with seizure onset at 8m of age and mild developmental delay. GABRA1 GABRA1 1 1 Bernt Popp
00074453 - PubMed: Carvill 2014, Journal: Carvill 2014 - M no ? (unknown) - - 0 - - EIEE-19 18y old male with seizures tarting from 8m of age and mild ID. GABRA1 GABRA1 1 1 Bernt Popp
00074454 - PubMed: Kodera 2016, Journal: Kodera 2016 - F no (Japan) - - 0 - - EIEE-19 8y old female with seizures and encephalopathy with onset at age 4m and severe ID with regression. GABRA1 GABRA1 1 1 Bernt Popp
00074455 - PubMed: Kodera 2016, Journal: Kodera 2016 - F no (Japan) - - 0 - - EIEE-19 6y old female with seizure onset at age 1m and severe ID. GABRA1 GABRA1 1 1 Bernt Popp
00074456 - PubMed: Kodera 2016, Journal: Carvill 2014 - M no (Japan) - 01y 0 - - EIEE-19 Male patient with severe seizures from 1.5m of age and severe ID who died at age of 1y, GABRA1 GABRA1 1 1 Bernt Popp
00074457 - PubMed: Kodera 2016, Journal: Carvill 2014 - F no (Japan) - - 0 - - EIEE-19 9y old female with seizres from age 6m and sever ID. GABRA1 GABRA1 1 1 Bernt Popp
00074458 - PubMed: Kodera 2016, Journal: Carvill 2014 - M no (Japan) - - 0 - - EIEE-19 10y old male with seizure onset at age 7m and sever ID. GABRA1 GABRA1 1 1 Bernt Popp
00074461 - PubMed: Epi4K Consortium. 2013, Journal: Epi4K Consortium. 2013 - M no ? (unknown) - - 0 - - EIEE-19 Male patient with seizure onset at age 1m and delayed development. GABRA1 GABRA1 1 1 Bernt Popp
00074464 - - - M no Germany Caucasian - 0 - - EIEE-19 1y2m old male patient with Williams-Beuren syndrome, early infantile epileptic encephalopathy with seizures from age 5m and delayed develompent. GABRA1 GABRA1 1 1 Bernt Popp
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