All individuals with variants in gene EFHC1

53 entries on 1 page. Showing entries 1 - 53.
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AscendingIndividual ID     

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Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00095424 - - - F no India South Indian - 0 - - EJM - 1 1 Anuranjan Anand
00095425 - - - M no India South Indian - 0 - - EJM - 1 1 Anuranjan Anand
00177014 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - 0 - - EE HP:0001252 HP:0002509 HP:0001266 HP:0000219 HP:0002705 HP:000319 HP:0000286 HP:0000494 HP:0000508 HP:0011359 HP:0100798 1 2 Anaïs Begemann
00177029 15258581-Fam1 PubMed: Suzuki 2004 3-generation family, 3 affected (F, 2M), 4 asymtomatic heterozygous carriers (F, 4M) F;M - Mexico - - 0 - - EJM see paper 2 7 Johan den Dunnen
00177030 15258581-Fam2 PubMed: Suzuki 2004 3-generation family, 2 affected (2F), 2 asymtomatic heterozygous carriers (F, M) F;M - Mexico - - 0 - - EJM see paper 2 4 Johan den Dunnen
00177031 15258581-Fam3 PubMed: Suzuki 2004 2-generation family, 3 affected (2F, M), 1 asymtomatic heterozygous carriers (M) F;M - Mexico - - 0 - - EJM see paper 1 4 Johan den Dunnen
00177032 15258581-Fam4 PubMed: Suzuki 2004 3-generation family, 4 affected (3F, M), 5 asymtomatic heterozygous carriers (F, 4M) F;M - Mexico - - 0 - - EJM see paper 1 9 Johan den Dunnen
00177033 15258581-Fam5 PubMed: Suzuki 2004 2-generation family, 2 affected (2M), 2 asymtomatic heterozygous carriers (F, M) F;M - Mexico - - 0 - - EJM see paper 1 4 Johan den Dunnen
00177034 15258581-Fam6 PubMed: Suzuki 2004 2-generation family, 2 affected (F, M) F;M - Mexico - - 0 - - EJM see paper 1 2 Johan den Dunnen
00177035 15258581-Fam7 PubMed: Suzuki 2004 4-generation family, 8 affected (4F, 4M), 11 asymtomatic heterozygous carriers F;M - Belize - - 0 - - EJM see paper 1 19 Johan den Dunnen
00177036 28370826-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure, absence seizure; photoparoxysmal response 1 1 Sourav Nayak
00177037 28370827-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response 1 1 Sourav Nayak
00177038 28370828-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure 1 1 Sourav Nayak
00177039 28370829-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure 1 1 Sourav Nayak
00177040 28370830-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure, absence seizure; no photoparoxysmal response 1 1 Sourav Nayak
00177041 28370831-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response 1 1 Sourav Nayak
00177042 28370832-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG normal; 1 1 Sourav Nayak
00177043 28370833-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response 1 1 Sourav Nayak
00177044 28370834-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response 1 1 Sourav Nayak
00177045 28370835-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response 1 1 Sourav Nayak
00177046 28370836-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response 1 1 Sourav Nayak
00177047 28370837-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure 1 1 Sourav Nayak
00177048 28370838-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response 1 1 Sourav Nayak
00177049 28370839-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response 1 1 Sourav Nayak
00177050 28370840-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response 1 1 Sourav Nayak
00177051 28370841-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure,generalized tonic–clonic seizure, absence seizure,febrile seizure; no photoparoxysmal response 1 1 Sourav Nayak
00177052 28370842-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; 1 1 Sourav Nayak
00177053 28370843-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response 1 1 Sourav Nayak
00177054 28370844-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response 1 1 Sourav Nayak
00177055 28370845-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response 1 1 Sourav Nayak
00177056 28370846-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response 1 1 Sourav Nayak
00177057 28370847-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response 1 1 Sourav Nayak
00177058 28370848-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response 1 1 Sourav Nayak
00177059 28370849-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response 1 1 Sourav Nayak
00177060 28370850-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure 1 1 Sourav Nayak
00177061 28370851-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response 1 1 Sourav Nayak
00177062 28370852-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response 1 1 Sourav Nayak
00177063 28370853-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response 1 1 Sourav Nayak
00177067 28370826-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 158 Johan den Dunnen
00177068 28370827-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 70 Johan den Dunnen
00177069 28370828-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 75 Johan den Dunnen
00177070 28370829-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 9 Johan den Dunnen
00177071 28370830-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 199 Johan den Dunnen
00177072 28370831-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 4 Johan den Dunnen
00177073 28370832-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 5 Johan den Dunnen
00177074 28370833-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 1 Johan den Dunnen
00177075 28370834-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 193 Johan den Dunnen
00177076 28370835-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 9 Johan den Dunnen
00177077 28370836-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 11 Johan den Dunnen
00177078 28370837-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 1 Johan den Dunnen
00177079 28370838-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 434 Johan den Dunnen
00177080 28370839-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 4 Johan den Dunnen
00177081 28370840-Pat? PubMed: Raju 2017, Journal: Raju 2017 480 cases F;M - India - - 0 - - - - 1 94 Johan den Dunnen
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