Disease #00344 (EE (encephalopathy, epileptic (EE)))

Official abbreviation EE
Name encephalopathy, epileptic (EE)
OMIM ID -
Inheritance -
Individuals reported having this disease 237
Phenotype entries for this disease 232
Associated with 1 gene UGDH
Associated tissues -
Disease features -
Remarks -
Date created 2014-03-12 21:57:45 +01:00 (CET)
Date last edited 2015-12-07 07:11:25 +01:00 (CET)


Individuals

237 entries on 3 pages. Showing entries 1 - 100.
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
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Owner     
00016322 - - - M no Italy - - - - - EE diagnosis: epileptic encephalopathy and pervasive developmental disorder GPR98, KCNQ2, TBC1D24 GPR98, KCNQ2, TBC1D24 3 1 Lab Zuffardi
00016327 - - - M yes - - - - - - EE epileptic encephalopathy with severe cognitive impairment GPR98, GRIN2A GPR98, GRIN2A 2 1 Lab Zuffardi
00016328 - - - M no Italy - - - - - EE - SCN9A SCN9A 1 1 Lab Zuffardi
00074599 - - - F no - - - - - Memantine EE - GRIN2D GRIN2D 1 2 Dong Li
00081545 FamPatII2 PubMed: Ewans 2017 2-generation family, 4 affected sisters, unaffected non-carrier parents F no Australia - - - - - EE see paper; ..., intellectual disability, epilepsy; two regression in adolescence, deceased (16y, 22y) presumed sudden unexpected death in epilepsy - IQSEC2 1 4 Cheryl Shoubridge
00089198 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE early-onset epileptic encephalopathy SLC1A2 SLC1A2 1 1 Johan den Dunnen
00089199 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE early myoclonic encephalopathy SLC1A2 SLC1A2 1 1 Johan den Dunnen
00089200 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - EE epilepsy with myoclonic-atonic seizures GABRB3 GABRB3 1 1 Johan den Dunnen
00089201 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - EE Dravet syndrome like, seggregates with Generalized epilepsy with febrile seizures plus GABRB3 GABRB3 1 1 Johan den Dunnen
00089202 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE epileptic encephalopathy GABRB3 GABRB3 1 1 Johan den Dunnen
00089203 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE epileptic encephalopathy GABRB3 GABRB3 1 1 Johan den Dunnen
00089204 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - EE early-onset epileptic encephalopathy GABRB3 GABRB3 1 1 Johan den Dunnen
00089205 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE early-onset epileptic encephalopathy GABRB3 GABRB3 1 1 Johan den Dunnen
00089206 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - EE Lennox-Gastaut syndrome GABRB3 GABRB3 1 1 Johan den Dunnen
00089207 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - EE epilepsy of infancy with migrating focal seizures CACNA1A CACNA1A 1 1 Johan den Dunnen
00089208 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 father unavailable F - - - - - - - EE early-onset epileptic encephalopathy CACNA1A CACNA1A 1 1 Johan den Dunnen
00089209 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE early-onset epileptic encephalopathy CACNA1A CACNA1A 1 1 Johan den Dunnen
00089210 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 mosaic mother M - - - - - - - EE early-onset epileptic encephalopathy CACNA1A CACNA1A 1 1 Johan den Dunnen
00089211 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE early-onset epileptic encephalopathy CACNA1A CACNA1A 1 1 Johan den Dunnen
00089212 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 mosaic parent F - - - - - - - EE epileptic encephalopathy DNM1 DNM1 1 1 Johan den Dunnen
00089213 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - EE movement disorder; developmental epileptic encephalopathy; 9d-onset epilepsy; severe developmental delay GNAO1 GNAO1 1 1 Johan den Dunnen
00089214 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE symptomatic generalized epilepsy IQSEC2 IQSEC2 1 1 Johan den Dunnen
00089215 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 father unavailable F - - - - - - - EE early-onset epileptic encephalopathy ALG13 ALG13 1 1 Johan den Dunnen
00100789 27145208-Pat1 PubMed: Fahrner 2016, Journal: Fahrner 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - >04y - - - EE see paper; partial status epilepticus characterized by right hemibody clonus and impaired consciousness 2w following Diptheria, Tetanus, and Pertussis (DTaP) booster, ... DNM1L DNM1L 1 1 Johan den Dunnen
00100790 27145208-Pat2 PubMed: Fahrner 2016, Journal: Fahrner 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - >05y - - - EE see paper; 5y-healthy typically developing, except mild expressive speech delay (dysarthria), presented suddenly with focal status epilepticus/encephalopathy after minor head trauma (collision with other child) without loss of consciousness and normal head CT, ... DNM1L DNM1L 1 1 Johan den Dunnen
00100791 26931468-Pat PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - 05y - - - EE see paper; born at term; normal development until 5m when developed seizures, developmental regression, MRI brain revealed progressive volume loss, demyelination; 14m-global developmental delay, hypotonia, status epilepticus; 5y-died from severe status epilepticus with respiratory failure; ... DNM1L DNM1L 1 1 Johan den Dunnen
00100792 26931468-Pat2 PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United States - 00y10m - - - EE see paper; born 37w3d, pregnancy complicated by intrauterine growth restriction, hydrocephalus; 4d persistent lactic acidosis; died 10 m from pneumonia; .... DNM1L, PDHA1 DNM1L, PDHA1 2 1 Johan den Dunnen
00132786 47 - - - - Spain - - - - - EE - CDKL5 CDKL5 1 1 Iria Otera
00155201 II-1 PubMed: Nakamura 2014 - M no Japan - - - - - EE - - PIGO 2 2 Philippe Campeau
00155202 II-2 PubMed: Nakamura 2014 - F no Japan - - - - - EE - - PIGO 2 1 Philippe Campeau
00176985 69986 - - F no Switzerland - - - - - EE , Muscular hypotonia of the trunk (HP:0008936); Spastic paraparesis (HP:0002313); Horizontal pendular nystagmus (HP:0007811); Esotropia (HP:0000565); Abnormality of ocular smooth pursuit (HP:0000617) - ACO2, SDHAF2 3 1 Anaïs Begemann
00177002 72892 - - M no Afghanistan - - - - - EE HP:0008936 HP:0002273 HP:0000486 HP:0000617 HP:0010804 - ARX 1 1 Anaïs Begemann
00177003 73311 - - M no Austria - - - - - EE - - BRAT1 2 1 Anaïs Begemann
00177004 72404 - - M no Macedonia - - - - - EE HP:0000639 HP:0000817 HP:0000297 HP:0008936 HP:0000486 HP:0001285 HP:0003781 HP:0002015 HP:0002705 - CDKL5 1 1 Anaïs Begemann
00177005 73324 - - F no Switzerland - - - - - EE HP:0008936 HP:0000490 HP:0011228 HP:0001763 HP:0001053 - GABRB2 1 1 Anaïs Begemann
00177006 71693 - - M no Switzerland - - - - - EE HP:0008936 HP:0002078 HP:0002066 HP:0002522 HP:0001761 HP:0000154 HP:0004533 - KCNQ2, POLG 3 1 Anaïs Begemann
00177008 69937 - - M yes Sri Lanka - - - - - EE HP:0001252 HP:0001285 HP:0000278 HP:0011369 HP:0010332 - CLCNKB, PRUNE 2 1 Anaïs Begemann
00177009 34124 - - M no Switzerland - - - - - EE HP:0001252 HP:0002066 - SCN1A 1 1 Anaïs Begemann
00177010 47970 - - M no Switzerland - - - - - EE HP:0002510 HP:0003781 HP:0002705 HP:0000431 HP:0011078 - SCN1A 1 1 Anaïs Begemann
00177011 75143 - - F no Switzerland - - - - - EE HP:0001285 - SCN1A 1 1 Anaïs Begemann
00177012 42680 PubMed: Papuc 2019, PubMed: Begemann 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Switzerland - - - - - EE no pre-/perinatal anomalies; birth 41w1d, weight 4120 g, length 51 cm; severe intellectual disability (HP:0001249); normal behavior; developmental delay; no sit, no walk; no speech; 3d-seizures, myoclonic seizures, tonic seizures, 1-7 seizures/day pharmacoresistant, no acquired microcephaly; spasticity, bilateral contractures knees; high narrow palate (HP:0002705); cortical visual impairment, gastro-jejunal tube; EEG-frontocentral spike-wave activity sides, burst suppression; 4d-MRI normal; 44y-MRI generalized supra- and infratentorial atrophy, bilateral hippocampal atrophy, left-sided hippocampal sclerosis, atrophy orpus callosum - SCN2A 1 1 Anaïs Begemann
00177013 43092 - - M no - white (ancestors from Austra and Russia) - - - - EE HP:0001252 HP:0002066 HP:0100807 HP:0006184 HP:0000767 - CHST6, SCN8A, TTN 3 1 Anaïs Begemann
00177014 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - - - - EE HP:0001252 HP:0002509 HP:0001266 HP:0000219 HP:0002705 HP:000319 HP:0000286 HP:0000494 HP:0000508 HP:0011359 HP:0100798 - EFHC1, FIG4, SMS, SOS1, SPTAN1 5 2 Anaïs Begemann
00177015 47651 - - M no Switzerland - - - - - EE HP:0000666 HP:0002451 HP:0001285 - ATM, BMP15, SPATA5, USP26 5 1 Anaïs Begemann
00177016 73068 - - M no Switzerland - - - - - EE HP:0000407 HP:0001285 HP:0012043 HP:0000565 HP:0002015 HP:0000276 HP:0000275 HP:0000286 HP:0000431 HP:0002705 HP:0012098 HP:0005257 HP:0000953 - COL6A3, SPATA5 3 1 Anaïs Begemann
00177023 73805 - - M no Afghanistan - - - - - EE HP:0008936 HP:0002313 HP:0005348 HP:0007028 HP:0007337 HP:0006811 HP:0002469 HP:0000340 HP:0002705 HP:0005257 HP:0000767 HP:0001212 - STXBP1 1 1 Anaïs Begemann
00177024 72943 - - M no Switzerland - - - - - EE HP:0001252 HP:0000337 HP:0400005 HP:0000278 HP:0000331 HP:0002705 HP:0000772 HP:0000768 HP:0008743 HP:0002761 HP:000103 - SZT2 2 1 Anaïs Begemann
00177025 49635 - - M no Armenia - - - - - EE - - - - 1 Anaïs Begemann
00177064 33386 - - F no Switzerland - - - - - EE HP:0001252 HP:0001285 HP:0000549 HP:0007772 - GTF3C3 2 1 Anaïs Begemann
00177065 69314 - - F no Switzerland - - - - - EE HP:0001252 HP:0002066 HP:0002007 HP:0400005 HP:0000457 - PDE11A, PIK3AP1 3 1 Anaïs Begemann
00177066 76366 PubMed: Nahorski 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Switzerland - - - - - EE HP:0007325 HP:0001285 HP:0005348 HP:0002705 HP:0010804 HP:0000293 HP:0011800 HP:0009748 HP:0009803 - PIF1, TRAPPC2, UFC1 3 1 Anaïs Begemann
00177082 73450 - mother German, father Swiss/Ghanaian M no Germany;Ghana;Switzerland - - - - - EE HP:0008936 HP:0002066 HP:0011220 HP:0008070 HP:0002761 HP:0001763 - KRT85, MIB1, MPO, WRAP53 6 1 Anaïs Begemann
00179397 29868776-FamPat10DG0945/0946 PubMed: Nahorski 2018 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Sudan - - - - - EE see paper; …, profound global developmental delay, failure to thrive, progressive microcephaly, refractive epilepsy, subtle facial dysmorphism, severe axial hypotonia, appendicular hypertonia; MRI brain brain dysmyelination, volume loss; EEG hypsarrhythmia; premature death one case UFM1 UFM1 1 2 Johan den Dunnen
00179398 29868776-FamPatUK1/2 PubMed: Nahorski 2018 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M yes Sudan - - - - - EE see paper; …, profound global developmental delay, failure to thrive, progressive microcephaly, refractive epilepsy, subtle facial dysmorphism, severe axial hypotonia, appendicular hypertonia; MRI brain brain dysmyelination, volume loss; EEG hypsarrhythmia; premature death one case UFM1 UFM1 1 2 Johan den Dunnen
00179399 29868776-Fam1Pats PubMed: Nahorski 2018 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - EE see paper; ..., severe early infantile encephalopathy, progressive microcephaly, axial hypotonia, appendicular hypertonia, refractory epilepsy UFC1 UFC1 1 3 Johan den Dunnen
00179400 29868777-Fam2Pats PubMed: Nahorski 2018 4-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - EE see paper; ..., severe early infantile encephalopathy, progressive microcephaly, axial hypotonia, appendicular hypertonia, refractory epilepsy UFC1 UFC1 1 2 Johan den Dunnen
00179401 29868778-Fam2Pats PubMed: Nahorski 2018 3-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - EE see paper; ..., severe early infantile encephalopathy, progressive microcephaly, axial hypotonia, appendicular hypertonia, refractory epilepsy UFC1 UFC1 1 2 Johan den Dunnen
00179402 28931644-Fam1Pat1 PubMed: Hamilton 2017 - M - - - - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179403 28931644-Fam2Pat2 PubMed: Hamilton 2017 - F yes - Roma - - - - EE see paper; … UFM1 UFM1 1 3 Johan den Dunnen
00179404 28931644-Fam2Pat3 PubMed: Hamilton 2017 - M yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179405 28931644-Fam3Pat4 PubMed: Hamilton 2017 - M yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179406 28931644-Fam4Pat5 PubMed: Hamilton 2017 - M yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179407 28931644-Fam5Pat6 PubMed: Hamilton 2017 - F no - - - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179408 28931644-Fam6Pat7 PubMed: Hamilton 2017 - F yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179409 28931644-Fam7Pat8 PubMed: Hamilton 2017 - M yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179410 28931644-Fam8Pat9 PubMed: Hamilton 2017 - M yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179411 28931644-Fam9Pat10 PubMed: Hamilton 2017 - F yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179412 28931644-Fam10Pat11 PubMed: Hamilton 2017 - F yes - Roma - - - - EE see paper; … UFM1 UFM1 1 2 Johan den Dunnen
00179413 28931644-Fam10Pat12 PubMed: Hamilton 2017 - F yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179414 28931644-Fam11Pat13 PubMed: Hamilton 2017 - M yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179415 28931644-Fam2Pat14 PubMed: Hamilton 2017 2nd cousin Pat2/3 F yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179416 28931644-Fam13Pat15 PubMed: Hamilton 2017 - M no - - - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179417 28931644-Fam14Pat16 PubMed: Hamilton 2017 - F yes - Roma - - - - EE see paper; … UFM1 UFM1 1 1 Johan den Dunnen
00179423 27829678-FamA PubMed: Colin 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M no Finland - - - - - EE see paper; … UBA5 UBA5 2 2 Johan den Dunnen
00179424 27829679-FamB PubMed: Colin 2016 2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives F;M no Finland - - - - - EE see paper; … UBA5 UBA5 2 3 Johan den Dunnen
00179425 27829680-FamC PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) white - - - - EE see paper; … UBA5 UBA5 2 1 Johan den Dunnen
00179426 27829681-FamD PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Northern Ireland;Romania - - - - - EE see paper; … UBA5 UBA5 2 1 Johan den Dunnen
00179427 27829682-FamE PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Finland - - - - - EE see paper; … UBA5 UBA5 2 1 Johan den Dunnen
00179428 27545674-FamA PubMed: Muona 2016 2-generation family, affected brothers, unaffected heterozygous carrier parents M no France - - - - - EE see paper; … UBA5 UBA5 2 2 Johan den Dunnen
00179429 27545675-FamB PubMed: Muona 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - EE see paper; … UBA5 UBA5 2 1 Johan den Dunnen
00179430 27545676-FamC PubMed: Muona 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - - - - EE see paper; … UBA5 UBA5 2 1 Johan den Dunnen
00179431 27545677-FamD PubMed: Muona 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Kuwait - - - - - EE see paper; … UBA5 UBA5 2 1 Johan den Dunnen
00179432 28965491-Fam PubMed: Arnadottir 2017 2-generation family, affected sisters, unaffected heterozygous carrier parents/relatives F no Iceland - - - - - EE see paper; … UBA5 UBA5 2 2 Johan den Dunnen
00180890 - PubMed: Zweier 2019, Journal: Zweier 2019 - F no Switzerland - - - - - EE HP:0000252 - CYFIP2 1 1 Anaïs Begemann
00180893 - PubMed: Zweier 2019, Journal: Zweier 2019 - F no United States Nigerian - - - - EE HP:0000252 - CYFIP2 1 1 Anaïs Begemann
00180894 - PubMed: Zweier 2019, Journal: Zweier 2019 - F no United States - - - - - EE - - CYFIP2 1 1 Anaïs Begemann
00180895 - PubMed: Zweier 2019, Journal: Zweier 2019 - F no Estonia - - - - - EE - - CYFIP2 1 1 Anaïs Begemann
00180897 - PubMed: Zweier 2019, Journal: Zweier 2019 - F no United States Mexican - - - - EE HP:0000252 - CYFIP2 1 1 Anaïs Begemann
00180899 - PubMed: Zweier 2019, Journal: Zweier 2019 - M no Germany - - - - - EE - - CYFIP2 1 1 Anaïs Begemann
00180901 - PubMed: Zweier 2019, Journal: Zweier 2019 - F no France - - - - - EE - - CYFIP2 1 1 Anaïs Begemann
00181099 52236 - - F no Switzerland - - - - - EE HP:0000316 HP:0000331 HP:0000675 HP:0000699 HP:0000411 HP:0002808 HP:0001956 HP:0001763 HP:0001852 - STXBP1 1 1 Anaïs Begemann
00181150 72440 - - M no Eritrea - - - - - EE - - ABCC2, NPC1 3 1 Anaïs Begemann
00181151 41637 - - M no Switzerland - - - - - EE - - ADCK3 2 1 Anaïs Begemann
00181152 32546 - - M no Switzerland - - - - - EE - - AR 1 1 Anaïs Begemann
00181155 70855 - - F no Switzerland mother Bosnian, father Croatian - - - - EE - - ATM 1 1 Anaïs Begemann
00181161 69733 - - M no Korea from Kosovo - - - - EE - - CLCN1 2 1 Anaïs Begemann
00181162 73237 - - F no Switzerland - - - - - EE - - CLCN2 1 1 Anaïs Begemann
00181164 59248 - - F - - - - - - - EE HP:0008936 HP:0001285 HP:0000639 HP:0000311 HP:0000160 HP:0000653 HP:0000286 HP:0003196 HP:0000463 HP:0000294 HP:0006610 - COL5A1, DPM1, KCNQ3 3 1 Anaïs Begemann
00181169 56302 - - M yes - - - - - - EE - - GALNTL5 1 1 Anaïs Begemann
00181170 68944 - - M no Switzerland - - - - - EE - - C7orf10, GJB2, NDUFA1, RYR2, TSC2 6 1 Anaïs Begemann
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