Disease #04270

Official abbreviation epilepsy
Name epilepsy
OMIM ID -
Individuals reported having this disease 55
Phenotype entries for this disease 42
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

55 entries on 1 page. Showing entries 1 - 55.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000038 - PubMed: Bell 2011 - - - - - - 0 - - epilepsy - ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MTHFR, MYO5A, NHLRC1, SMPD1 ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MYO5A, NHLRC1, PRKAR1A, SMPD1, TMPPE 10 1 LOVD-team, but with Curator vacancy
00051661 - - - ? - Japan - - 0 - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00051662 - - - ? - Japan - - 0 - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00051663 - - - ? - Japan - - 0 - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00051664 - - - ? - Japan - - 0 - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00051665 - - - ? - Japan - - 0 - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00074462 - PubMed: Maljevic 2006, Journal: Maljevic 2006 - M no Germany Caucasian - 0 - - epilepsy 18y old male patient with childhood absence epilepsy starting at age 3y. GABRA1 GABRA1 1 1 Bernt Popp
00102728 24534542-Pat2 PubMed: Marques 2014 - M - Portugal - - 0 - - epilepsy, MRT Macrocephaly (1y); refractory epilepsy with progressive cognitive regression (6y); bilateral strabismus; with normal strength and without muscle complaints (able to run, climb stairs and run) at 21y; brain MRI: white matter changes and occypital agyria. LAMA2 LAMA2 2 1 Jorge Oliveira
00119071 - - 2-generation family, 3 affected (1F, 2M) F no - (not applicable) - - 0 - - epilepsy photosensitive genetic generalised epilepsy - HCN2 1 1 Christopher Reid
00119072 - - 2-generation family (2F, 1M) F no - - - 0 - - epilepsy Idiopathic Photosensitive Occipital Epilepsy - HCN2 1 1 Christopher Reid
00119073 - - 2-generation family, 2M affected, 1M variant carrier M no Italy - - 0 - - epilepsy early onset absence epilepsy - HCN2 1 1 Christopher Reid
00119074 - - 2-generation family, 3 affected F no - - - 0 - - epilepsy unclassified epilepsy - HCN2 1 3 Christopher Reid
00119075 - - 1M affected M - - - - 0 - - epilepsy generalized epilepsy - HCN2 1 1 Christopher Reid
00132052 - - - F - Germany - - 0 - - epilepsy Atypical absence seizures (HP:0007270), Generalized myoclonic seizures (HP:0002123) KCNMA1 KCNMA1 1 1 Qing Kenneth Wang
00132053 - - - F - China - - 0 - - epilepsy - KCNMA1 KCNMA1 1 1 Qing Kenneth Wang
00132054 - - - F - United States - - 0 - - epilepsy Absence seizures (HP:0002121), Atonic seizures (HP:0010819), Focal myoclonic seizures (HP:0011166), Focal tonic seizures (HP:0011167) KCNMA1 KCNMA1 1 1 Qing Kenneth Wang
00132055 - - - F - Germany - - 0 - - epilepsy epileptic encephalopathy (HP:0200134) KCNMA1 KCNMA1 1 1 Qing Kenneth Wang
00148581 - PubMed: Campion D 1995 PubMed: Campion D 1999 PubMed: Campion D 1995 - - - France Caucasian 52y07m 0 - - AD, epilepsy - PSEN1 PSEN1 1 38 Marc Cruts
00149037 - - - - - Greece Caucasian 39y 0 - - AD, epilepsy - PSEN1 PSEN1 1 3 Marc Cruts
00149438 - - - - - - Caucasian (Bulgarian) - 0 - - AD, epilepsy - PSEN1 PSEN1 1 2 Marc Cruts
00149552 - - - - - - - 67y 0 - - AD, epilepsy - APP APP 1 2 Marc Cruts
00154932 - - - F no Denmark - - 0 - - epilepsy, ID - - CUX2 1 1 Elsebet Østergaard
00163846 IV-1 PubMed: Pagnamenta 2018 DECIPHER ID 265247 M yes - Pakistani - 0 - - epilepsy, microcephaly, developmental delay - - PIGH 1 2 Philippe Campeau
00163847 IV-2 PubMed: Pagnamenta 2018 - F yes - Pakistani - 0 - - epilepsy, microcephaly, developmental delay - - PIGH 1 1 Philippe Campeau
00163931 259633 PubMed: Pagnamenta 2017 - F no - White British Caucasian - 0 - - epilepsy - - PIGN 2 1 Philippe Campeau
00163932 - PubMed: Nakagawa et al.2015 - M no Japan - - 0 - - epilepsy, ID - - PIGN 2 1 Philippe Campeau
00164481 R_1250 - - M no Poland - 09y 0 - - epilepsy Epileptic encephalopathy (HP:0200134); Abnormal facial shape (HP:0001999) - PPP3CA 1 1 Rafał Płoski
00168053 15502825-Fam PubMed: Simpson 2004 8-generation family, 9 affected (2F, 7M), unaffected carrier parents/relatives F;M yes United States Amish - 0 - - epilepsy see paper; ..., infantile-onset symptomatic epilepsy syndrome, developmental stagnation, blindness ST3GAL5 ST3GAL5 1 9 Johan den Dunnen
00168065 22990144-FamPatV5/6 PubMed: Fragaki 2013 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes France - - 0 - - epilepsy see paper; ..., early-onset refractory epilepsy, psychomotor delay, failure to thrive, blindness, deafness ST3GAL5 ST3GAL5 1 2 Johan den Dunnen
00180896 - Zweier et al., submitted - M no United Kingdom (Great Britain) - - 0 - - epilepsy HP:0001249 - CYFIP2 1 1 Anaïs Begemann
00205855 - - - - - China - - 0 - - epilepsy - CAMK2A - 0 1 Jinliang Li
00205859 - - - - - China - - 0 - - epilepsy - - SCN3A 1 1 Jinliang Li
00205861 patient 1 - - F - China - - 0 - - epilepsy - HDAC8 HDAC8 1 1 Jinliang Li
00205862 patient2 - - F no China - - 0 - - epilepsy - CAMK2A CAMK2A 1 1 Jinliang Li
00205864 patient3 - - F no China - - 0 - - epilepsy - HIBCH HIBCH 2 1 Jinliang Li
00205865 patient4 - - F - China - - 0 - - epilepsy - KCNQ5 KCNQ5 1 1 Jinliang Li
00205866 patient5 - - M - China - - 0 - - epilepsy - KCNQ5 KCNQ5 1 1 Jinliang Li
00205867 patient6 - - M - China - - 0 - - epilepsy - SCN3A SCN3A 1 1 Jinliang Li
00205868 patient7 - - F no China - - 0 - - epilepsy - PPP3CA PPP3CA 1 1 Jinliang Li
00205869 patient8 - - F no China - - 0 - - epilepsy - PACS2 PACS2 1 1 Jinliang Li
00207532 Patient PubMed: Foskett et al., 2018 - F no Mexico Mexican >00y08m 0 - - epilepsy Infantile spasms, myoclonic seizures, cortical visual impairment, developmental delay, and minor dysmorphic features (Anteverted nares, tented upper lip), pectus excavatum, and mild flexion contractures of all fingers bilaterally. Alkaline phosphatase levels ranged from normal to mildly elevated. No evidence of metabolic bone disease. PIGW PIGW 2 1 Philippe Campeau
00209022 28771251-Pat37 PubMed: Lionel 2018 - M - Canada - - 0 - - epilepsy epilepsy GRIN2A GRIN2A 1 1 Johan den Dunnen
00209024 28771251-Pat41 PubMed: Lionel 2018 - M - Canada - - 0 - - epilepsy Epilepsy and global developmental delay STXBP1 STXBP1 1 1 Johan den Dunnen
00218061 - III.3 - F no Poland - - 0 - - epilepsy Generalised epilepsy Intellectual Disability Gingival Abnormalities Nail Abnormalities ATP6V1B2 ATP6V1B2 1 6 Marie Shaw
00224853 - unpublished - M - - - - 0 - - epilepsy - TSC1 TSC1 1 1 Rosemary Ekong
00226156 - - - - - China - - 0 - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226157 - - - - - China - - 0 - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226158 - - - - - China - - 0 - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226159 - - - - - China - - 0 - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226160 - - - - - China - - 0 - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226161 - - - - - China - - 0 - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226162 - - - - - China - - 0 - - epilepsy - - CSNK2B 1 1 Jinliang Li
00226163 - - - - - China - - 0 - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00239190 case PubMed: Moore 2001 - F - - - - 0 - - epilepsy 5y-typical childhood absence epilepsy; 14-15y developed myoclonic seizures and later rare tonic-clonic seizures; EEG typical absences and subsequent persistent bilateral synchronous spike-wave discharges without accompanying clinical signs, last 20 years the EEG normal JRK JRK 1 1 Johan den Dunnen
00239790 - - - M - Argentina - - 0 - - epilepsy persistent crisis of atipical febrile seizures SCN1A ALDH7A1, SCN1A 2 1 GENBIOMOL - Carla Bidinost
Legend