Disease #03514 (EPM6 (epilepsy, myoclonic, progressive, type 6 (EPM-6)), OMIM:614018)

Official abbreviation EPM6
Name epilepsy, myoclonic, progressive, type 6 (EPM-6)
OMIM ID 614018
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 1 gene GOSR2
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00054881 Pat1 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Australia - 32y - - - EPM6 7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170) COASY, GOSR2, KRT16 COASY, GOSR2, KRT16 3 1 Johan den Dunnen
00054882 Pat2 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no Germany - >17y - - - EPM6 4y tremor; 6y myoclonus; 14y drop attacks; myoclonic status; 2y areflexia; 15y wheelchair; normal cognition; scoliosis; EEG generalized spike-wave, posterior emphasis photosensitive; CK 150–580 (normal <170) GOSR2 GOSR2 1 1 Johan den Dunnen
00054883 Pat3 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no Netherlands - >32y - - - EPM6 6y myoclonus; 14y convulsive seizures; 3y areflexia; 13y wheelchair; normal cognition; scoliosis, syndactly; EEG generalized spike-wave photosensitive; CK 141–267 (normal <170) GOSR2 GOSR2 1 1 Johan den Dunnen
00054884 Pat4 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F no Netherlands - >30y - - - EPM6 5y fine motor problems; 7y worsening ataxia; 6y absences; 10y myoclonus; 12y tonic-clonic; 14y drop attacks; 7y areflexia; 24y wheelchair; normal cognition until 25y, memory difficulties later; scoliosis, syndactly; EEG generalized spike-wave, posterior emphasis photosensitive; CK 700–900 (normal <170) GOSR2 GOSR2 1 1 Johan den Dunnen
00054885 Pat5a PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F no Netherlands - 24y - - - EPM6 6y myoclonus; 21y tonic-clonic seizures; 6y areflexia; 14y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 300–668 (normal <170) GOSR2 GOSR2 1 2 Johan den Dunnen
00054886 Pat5b PubMed: Corbett 2011, Journal: Corbett 2011 brother of 5a M no Netherlands - >28y - - - EPM6 5.5y myoclonus; 24y tonic-clonic seizures; absences; tonic seizures; 3y areflexia; 13y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 174–213 (normal <170) GOSR2 GOSR2 1 1 Johan den Dunnen
00054887 Pat1;Pat8 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >19y - - - EPM6 Ramsay Hunt Syndrome; 3y ataxia, 5y myoclonus, 9y tonic seizures, 3y areflexia, scoliosis; EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK normal; 5y muscle histology normal; 19y ambulant; normal cognition GOSR2 GOSR2 1 1 Johan den Dunnen
00054888 Pat2;Pat12 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >26y - - - EPM6 Ramsay Hunt Syndrome; 3y ataxia, 6y myoclonus, 11y generalized tonic clonic seizures, 6y areflexia (not tested earlier), no skeletal abnormaliatie;, EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK normal; 19y ambulant; mild learning difficulties GOSR2 GOSR2 1 1 Johan den Dunnen
00054889 Pat3;Pat9 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >20y - - - EPM6 Ramsay Hunt Syndrome; 2y ataxia, 6y myoclonus, 6y generalized tonic clonic seizures, 9y areflexia (not tested earlier), scoliosis, syndactyl;, EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy; CK normal; 8y wheelchair-bound; mild learning difficulties GOSR2 GOSR2 1 1 Johan den Dunnen
00054890 Pat4;Pat5 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >12y - - - EPM6 Ramsay Hunt Syndrome; 5y ataxia, 8y myoclonus, 3y clonic seizures, 5y areflexia, scoliosis,; EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK 400-500 (normal <200); 7y/10y muscle histology normal; 12y ambulant; normal cognition GOSR2 GOSR2 1 1 Johan den Dunnen
00054891 Pat5;patient;Pat4 PubMed: Van Egmond 2014, Journal: Van Egmond 2014, PubMed: van Egmond 2015, PubMed: Polet 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - >07y - - - EPM6 2y-frequent falls, clumsy gait; 3y ataxia, 6y myoclonus, no seizures, 3y areflexia, no skeletal abnormalities; 3y EMG normal; CK normal; 7y ambulant; normal cognition GOSR2 GOSR2 1 1 Johan den Dunnen
00154385 - - - F no United States - - - - - EPM6 - GOSR2 GOSR2 2 1 Elizabeth Ulm
00334904 PME15 PubMed: Courage 2021, Journal: Courage 2021 - F yes Italy - - - - - EPM6 Onset age 14 of ataxia. Severe myoclonus from age 32, TCS, moderate dementia. Dysphagia and pyramidal signs noted. Psychiatric co-morbidities. Severe cerebral, moderate cerebellar atrophy. EEG: photoparoxysmal response. - CLN6 1 1 Carolina Courage
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