All individuals with variants in gene GABRG2

36 entries on 1 page. Showing entries 1 - 36.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00016324 - - Diagnosis: Febrile seizures F ? Italy - - - - - ? familial febrile seizures 1 1 Lab Zuffardi
00035887 - - - - - Germany - - - - - ? infant epilepsy (not seizure-free), parents consanguine ,family history positive (2 sisters affected) 1 1 Andreas Laner
00035888 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035889 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035890 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035891 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00117051 S_620:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117081 S_689:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117097 S_724:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117100 S_728:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117111 S_75:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00244439 - - - - - (Italy) - - - - - RTT - 1 1 Silvia Russo
00269478 - PubMed: Minardi 2020 - - - Italy - - - - - EE Epileptic encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00269544 - PubMed: Baulac 2001 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus 1 1 Johan den Dunnen
00269545 - PubMed: Shi 2010 - - - - - - - - - epilepsy seizures, generalized tonic-clonic 1 1 Johan den Dunnen
00269546 - PubMed: Cantarín-Extremera 2011 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus 1 1 Johan den Dunnen
00269547 - PubMed: Hirose 2006 - - - - - - - - - epilepsy myoclonic epilepsy of infancy 1 1 Johan den Dunnen
00269548 - Johnston 2010, HG online - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus 1 1 Johan den Dunnen
00269549 - PubMed: Wallace 2001 - - - - - - - - - epilepsy epilepsy, childhood absence with febrile seizures 1 1 Johan den Dunnen
00269550 - PubMed: Cantarín-Extremera 2011 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus 1 1 Johan den Dunnen
00269551 - PubMed: Lachance-Touchette 2011 - - - - - - - - - epilepsy epilepsy, idiopathic generalised 1 1 Johan den Dunnen
00269552 - PubMed: Harkin 2002 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus 1 1 Johan den Dunnen
00269553 - PubMed: Audenaert 2006 - - - - - - - - - epilepsy febrile seizures 1 1 Johan den Dunnen
00269554 - PubMed: Sun 2008 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus 1 1 Johan den Dunnen
00269555 - PubMed: Kananura 2002 - - - - - - - - - epilepsy epilepsy, childhood absence with febrile seizures 1 1 Johan den Dunnen
00303103 T20719 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE seizures febrile seizure (8m), absence, atonic, myoclonic jerks, tonic-clonic; EEG Normal; development prior to seizures normal; Normal, regression 1 1 Johan den Dunnen
00305977 Pat8 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00377149 171730 - - M - - - - - - - GEFSP Generalized non-motor (absence) seizure, Generalized-onset seizure, Dialeptic seizure, Non-motor seizure; positive family history (no details provided) 1 1 Andreas Laner
00412364 Fam8 PubMed: Halvardson 2016 - F - Sweden - - - - - NDD mild intellectual disability, initially fever induced epilepsy, generalized tonic clonic seizures, hyperactivity, only speaks a few words, microcephaly, valgus feet, hypertelorism, asymmetric facial features , large maxilla, strabismus 1 1 Johan den Dunnen
00436385 265369 - - F no Germany - - - - - GEFSP3 Epicanthus, Seizure, EEG abnormality, Focal-onset seizure, Ichthyosis 1 1 Andreas Laner
00438666 HSJ0563 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00449750 292986 - - M no Germany - - - - - FEB8 Seizure, Seizure precipitated by febrile infection 1 1 Andreas Laner
00458108 - - - F - - (not applicable) white - - - - NDD HP:0010864, HP:0000708, HP:0001337, HP:0001288, HP:0007272 1 1 Marketa Wayhelova
00468928 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468929 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00472184 - - - F no Spain - - - - - GEFSP3 Febrile seizures Absence seizures Generalized tonic-clonic seizures develop in adolescence 1 1 Maria Elena García Paya
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