Disease #01952

Official abbreviation EJM
Name epilepsy, myoclonic, juvenile (EJM)
OMIM ID 254770
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 41
Phenotype entries for this disease 41
Associated with 1 gene EFHC1
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

41 entries on 1 page. Showing entries 1 - 41.
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00074465 - PubMed: Cossette 2002, Journal: Cossette 2002 - - no Canada Caucasian - 0 - - EJM The clinical features of the epileptic syndrome are homogeneous in all 8 affected members of the family over four generations. . We assessed individuals I-01 and II-03 indirectly via individual II-04. The phenotype of individuals I-01 and II-03 seems to be compatible with JME. Individual IV-02 has EEG abnormalities (photosensitivity), but does not present clinical seizures. GABRA1 GABRA1 1 8 Bernt Popp
00095415 - - - F yes Lebanon - 08y 0 - - EJM intellectual disability CPLX1 CPLX1 1 1 Hermann-Josef Lüdecke
00095416 - - - F yes Lebanon - - 0 - - EJM intellectual disability CPLX1 CPLX1 1 1 Hermann-Josef Lüdecke
00095418 - - - M yes Turkey - - 0 - - EJM intellectual disability CPLX1 CPLX1 1 1 Hermann-Josef Lüdecke
00095424 - - - F no India South Indian - 0 - - EJM - EFHC1 EFHC1 1 1 Anuranjan Anand
00095425 - - - M no India South Indian - 0 - - EJM - EFHC1 EFHC1 1 1 Anuranjan Anand
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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 1 1 Sourav Nayak
00177038 28370828-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure EFHC1 EFHC1 1 1 Sourav Nayak
00177039 28370829-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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; EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 1 1 Sourav Nayak
00177047 28370837-Pat? PubMed: Raju 2017, Journal: Raju 2017 - M - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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; EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 1 1 Sourav Nayak
00177060 28370850-Pat? PubMed: Raju 2017, Journal: Raju 2017 - F - India - - 0 - - EJM myoclonic seizure, generalized tonic–clonic seizure EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 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 EFHC1 EFHC1 1 1 Sourav Nayak
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