Disease #03912 (EEOC (encephalopathy, epileptic, childhood-onset (EEOC)), OMIM:615369)

Official abbreviation EEOC
Name encephalopathy, epileptic, childhood-onset (EEOC)
OMIM ID 615369
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 11
Phenotype entries for this disease 7
Associated with 1 gene CHD2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-06-06 18:22:59 +02:00 (CEST)


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00033854 - PubMed: Saitsu 2016 - F ? Russian Federation - - - - refractory response to epilepsy treatment EEOC movement disorder; developmental epileptic encephalopathy; 2m-onset epilepsy; structural changes brain, atrophy, thinned corpus callosum; severe developmental delay; no speech GNAO1 GNAO1 1 1 Hirotomo Saitsu
00033855 - PubMed: Saitsu 2016 - F no Japan Japanese - - - refractory response to epilepsy treatment EEOC movement disorder; developmental epileptic encephalopathy; 7d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; severe developmental delay; no speech GNAO1 GNAO1 1 1 Hirotomo Saitsu
00080924 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - EEOC Epileptic encephalopathy, childhood-onset (OMIM:615369) CHD2 CHD2 1 1 Daniel Trujillano
00154979 - PubMed: Kim 2016 - M no - - - - - - EEOC - - PIGA 1 1 Philippe Campeau
00155009 IIHG-112-1 PubMed: Joshi 2016 - M no - - - - - - EEOC - - PIGA 1 2 Philippe Campeau
00155010 IIHG-112-5 PubMed: Joshi 2016 - M no - - - - - - EEOC - - PIGA 1 1 Philippe Campeau
00207501 Elder twin PubMed: Xie et al., 2018 Monozygotic twins M no China Chinese >00y14m - - Antiepileptic medications, ketogenic diet therapy EEOC Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, Status epilepticus, myoclonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 m. Mild dysmorphism (wide-set eyes, depressed nasal bridge, short anteverted nose.) Normal ALP level. Normal brain MRI. No microcephaly, bone deformity or joint contracture. PIGA PIGA 1 1 Philippe Campeau
00207513 YoungerTwin PubMed: Xie et al., 2018 Monozygotic twins M no China Chinese >00y14m - - Antiepileptic medications, ketogenic diet therapy EEOC Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 months. Normal ALP levels. Mild dysmorphism with wide-set eyes, depressed nasal bridge, and short anteverted nose. No status epilepticus, myoclonic seizures. No microcephaly, bone deformity or joint contracture. PIGA PIGA 1 1 Philippe Campeau
00391871 095P - - F no Spain - - - - - EEOC - - CHD2 1 1 Alejandro Brea-Fernández
00411273 LR17-520 PubMed: Wei 2022 - M - United States Hispanic-W - - - - EEOC Global severe neurodevelopmental delay. Hypotonia severe, cortical visual impairment, opisthotonus. Mild diffuse volume loss by MRI. KCNQ5 KCNQ5 1 1 Aguan Daniel Wei
00411274 LR16-509 PubMed: Wei 2022 - F - Netherlands Europe-W 16y - - - EEOC Global severe neurodevelopmental delay. Mild diffuse volume lost by MRI. KCNQ5 KCNQ5 1 1 Aguan Daniel Wei
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