Disease #01952 (EJM (epilepsy, myoclonic, juvenile (EJM)), OMIM:254770)

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 FamPat1 PubMed: Redler 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Lebanon - 08y 0 - - EJM see paper; ..., intellectual disability, no speech, hypotonia; seizures, 6m-epileptic spasms, 6m-8m-myoclonic seizures >100/day, 36m-generalised seizures; frequent infections, feeding problems, cranofacial anomalies, hypertelorism, bowed eyebrows, flat midface, long philtrum, thin upper lip, full cheeks, no clecft palate, no internal abnormaltities, no bilateral conductive hearing loss, no myopia, no strabismus, no hypothyreosis, brain Unilateral cerebellar cleft CPLX1 CPLX1 1 2 Hermann-Josef Lüdecke
00095416 FamPat2 PubMed: Redler 2017 sister F yes Lebanon - - 0 - - EJM see paper; ..., intellectual disability, no speech, hypotonia; seizures, no epileptic spasms, 2m-6m-myoclonic seizures >150/day, 12m-generalised seizures; nfrequent infections, feeding problems, cranofacial anomalies, hypertelorism, bowed eyebrows, flat midface, thin upper lip, no clecft palate, no internal abnormaltities, no bilateral conductive hearing loss, no myopia, no strabismus, hypothyreosis, no brain abnormalities CPLX1 CPLX1 1 1 Hermann-Josef Lüdecke
00095418 Pat3 2-generation family, 1 affected, unaffected heterozygous carrier parents - M yes Turkey - - 0 - - EJM see paper; ..., intellectual disability, sit-36m, speech nearly absent, hypotonia; seizures, no epileptic spasms, 24m-myoclonic seizures >50/day, 24m-36m generalised seizures; no frequent infections, feeding problems, cranofacial anomalies, marked eyebrows, large nose with bulbous tip, long philtrum, thin upper lip, clecft palate, no internal abnormalities, bilateral conductive hearing loss, myopia, strabismus, no hypothyreosis, no brain abnormalities 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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