Disease #05521 (seizures (seizures))

Official abbreviation seizures
Name seizures
OMIM ID -
Inheritance -
Individuals reported having this disease 130
Phenotype entries for this disease 130
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

130 entries on 2 pages. Showing entries 1 - 100.
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00207181 - PubMed: De Fusco 2003 - M - Italy - - 0 - Acetazolamide seizures 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence ATP1A2 ATP1A2 1 1 Paola Carrera
00207183 - PubMed: De Fusco 2003 - M - Italy - - 0 - Acetazolamide seizures 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence ATP1A2 ATP1A2 1 1 Paola Carrera
00207189 - PubMed: De Fusco 2003 - F - Italy - - 0 - Acetazolamide seizures 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence ATP1A2 ATP1A2 1 1 Paola Carrera
00225478 30388404-Pat1 PubMed: Schlingmann 2018, Journal: Schlingmann 2018 - F - - European - 0 - - seizures see paper; …, repeated status epilepticus, severe hypomagnesemia, renal magnesium wasting, global developmental delay, hyperactive behavior ATP1A1 ATP1A1 1 1 Johan den Dunnen
00225479 30388404Pat2 PubMed: Schlingmann 2018, Journal: Schlingmann 2018 - F - - European - 0 - - seizures see paper; …, monthly seizures, severe hypomagnesemia, renal magnesium wasting, global developmental delay, suspected autism spectrum disorder ATP1A1 ATP1A1 1 1 Johan den Dunnen
00225480 30388404-Pat3 PubMed: Schlingmann 2018, Journal: Schlingmann 2018 - M - Canada - - 0 - - seizures see paper; …, frequent seizures, repeated status epilepticus, severe hypomagnesemia, renal magnesium wasting, global developmental delay, speech delay, severe autism, self-biting behavior ATP1A1 ATP1A1 1 1 Johan den Dunnen
00302956 Pat1 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy (HP:0200134); Neonatal onset (HP:0003623); Seizure (HP:0001250) ACO2 ACO2 2 1 Johan den Dunnen
00302957 Pat2 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood ACTB ACTB 1 1 Johan den Dunnen
00302958 Pat3 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown ALX4 ALX4 1 1 Johan den Dunnen
00302959 Pat4 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Single unprovoked seizure; age onset childhood ANKRD11 ANKRD11 1 1 Johan den Dunnen
00302960 Pat5 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood ANKRD11 ANKRD11 1 1 Johan den Dunnen
00302961 Pat6 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms evolving to Lennox-Gastaut syndrome; age onset infantile ANO3, NALCN ANO3, NALCN 3 1 Johan den Dunnen
00302962 Pat7 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset childhood AP4B1 AP4B1 1 1 Johan den Dunnen
00302963 Pat8 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, unclassified; age onset unknown ASXL1 ASXL1 1 1 Johan den Dunnen
00302964 Pat9 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Generalized epilepsy with myoclonic seizures; age onset childhood AP4B1 AP4B1 1 1 Johan den Dunnen
00302965 Pat10 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, unclassified; age onset unknown ASXL1 ASXL1 1 1 Johan den Dunnen
00302966 Pat11 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset childhood ATP1A3 ATP1A3 1 1 Johan den Dunnen
00302967 Pat12 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Generalized epilepsy, unclassified; age onset neonatal ATP1A3 ATP1A3 1 1 Johan den Dunnen
00302968 Pat13 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile ARHGEF9 ARHGEF9 1 1 Johan den Dunnen
00302969 Pat14 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile ATP2B3, GNAO1 ATP2B3, GNAO1 2 1 Johan den Dunnen
00302970 Pat15 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile BRAF BRAF 1 1 Johan den Dunnen
00302971 Pat16 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Generalized epilepsy, childhood onset; age onset childhood CACNA1A CACNA1A 1 1 Johan den Dunnen
00302972 Pat17 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile CACNA1C CACNA1C 1 1 Johan den Dunnen
00302973 Pat18 PubMed: Helbig 2016 - - - United States - - 0 - - seizures generalized epilepsy with typical absence seizures; age onset childhood CACNA1A CACNA1A 1 1 Johan den Dunnen
00302974 Pat19 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood GNAO1 GNAO1 1 1 Johan den Dunnen
00302975 Pat20 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown CASK CASK 1 1 Johan den Dunnen
00302976 Pat21 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, infantile spasms; age onset infantile CCND2 CCND2 1 1 Johan den Dunnen
00302977 Pat22 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood CHD2 CHD2 1 1 Johan den Dunnen
00302978 Pat23 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Childhood Onset; age onset childhood CHD2 CHD2 1 1 Johan den Dunnen
00302979 Pat24 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood CHD7 CHD7 1 1 Johan den Dunnen
00302980 Pat25 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile COL4A1 COL4A1 1 1 Johan den Dunnen
00302981 Pat26 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, Rolandic; age onset childhood CREBBP CREBBP 1 1 Johan den Dunnen
00302982 Pat27 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset unknown CTNNB1 CTNNB1 1 1 Johan den Dunnen
00302983 Pat28 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset childhood CUL4B CUL4B 1 1 Johan den Dunnen
00302984 Pat29 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood CUL4B CUL4B 1 1 Johan den Dunnen
00302985 Pat30 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile DARS2 DARS2 2 1 Johan den Dunnen
00302986 Pat31 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, unclassified; age onset adolescent DEAF1 DEAF1 1 1 Johan den Dunnen
00302987 Pat32 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile DYNC1H1 DYNC1H1 1 1 Johan den Dunnen
00302988 Pat33 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset childhood DYRK1A DYRK1A 1 1 Johan den Dunnen
00302989 Pat34 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Lennox-Gastaut syndrome; age onset childhood EEF1A2 EEF1A2 1 1 Johan den Dunnen
00302990 Pat35 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, temporal lobe epilepsy; age onset infantile EEF1A2 EEF1A2 1 1 Johan den Dunnen
00302991 Pat36 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset infantile FGFR2 FGFR2 1 1 Johan den Dunnen
00302992 Pat37 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, temporal lobe epilepsy; age onset adolescent FHL1 FHL1 1 1 Johan den Dunnen
00302993 Pat38 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms evolving to Lennox-Gastaut syndrome; age onset infantile FOXG1 FOXG1 1 1 Johan den Dunnen
00302994 Pat39 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile FOXG1 FOXG1 1 1 Johan den Dunnen
00302995 Pat40 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile FOXG1 FOXG1 1 1 Johan den Dunnen
00302996 Pat41 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown GRHL3 GRHL3 1 1 Johan den Dunnen
00302997 Pat42 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset adolescent GRIN1 GRIN1 1 1 Johan den Dunnen
00302998 Pat43 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood GRIN1 GRIN1 1 1 Johan den Dunnen
00302999 Pat44 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal GRIN2B GRIN2B 1 1 Johan den Dunnen
00303000 Pat45 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Genetic Generalized Epilepsy; age onset childhood HMBS HMBS 1 1 Johan den Dunnen
00303001 Pat46 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood IQSEC2 IQSEC2 1 1 Johan den Dunnen
00303002 Pat47 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown IQSEC2 IQSEC2 1 1 Johan den Dunnen
00303003 Pat48 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown IQSEC2 IQSEC2 1 1 Johan den Dunnen
00303004 Pat49 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown KAT6B KAT6B 1 1 Johan den Dunnen
00303005 Pat50 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood KCNC3 KCNC3 1 1 Johan den Dunnen
00303006 Pat51 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal KCNQ2 KCNQ2 1 1 Johan den Dunnen
00303007 Pat52 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal KCNQ2 KCNQ2 1 1 Johan den Dunnen
00303008 Pat53 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal KCNQ2 KCNQ2 1 1 Johan den Dunnen
00303009 Pat54 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Benign Familial Neonatal Seizures; age onset neonatal KCNQ2 KCNQ2 1 1 Johan den Dunnen
00303010 Pat55 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Progressive Myoclonus Epilepsy; age onset childhood KCTD7 KCTD7 2 1 Johan den Dunnen
00303011 Pat56 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile KMT2A KMT2A 1 1 Johan den Dunnen
00303012 Pat57 PubMed: Helbig 2016 - - - United States - - 0 - - seizures epileptic encephalopathy, ESES, complex partial seizures; age onset childhood KMT2A KMT2A 1 1 Johan den Dunnen
00303013 Pat58 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile KMT2A KMT2A 1 1 Johan den Dunnen
00303014 Pat59 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset childhood LDLR LDLR 1 1 Johan den Dunnen
00303015 Pat60 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown LINS LINS 2 1 Johan den Dunnen
00303016 Pat61 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset adult MAP2K1 MAP2K1 1 1 Johan den Dunnen
00303017 Pat62 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, NOS/Rett syndrome; age onset unknown MECP2 MECP2 1 1 Johan den Dunnen
00303018 Pat63 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures/Rett syndrome; age onset childhood MECP2 MECP2 1 1 Johan den Dunnen
00303019 Pat64 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, possible ESES; age onset infantile MECP2 MECP2 1 1 Johan den Dunnen
00303020 Pat65 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood MECP2 MECP2 1 1 Johan den Dunnen
00303021 Pat66 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown MEF2C MEF2C 1 1 Johan den Dunnen
00303022 Pat67 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset childhood MEF2C MEF2C 1 1 Johan den Dunnen
00303023 Pat68 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown GLI2 GLI2 1 1 Johan den Dunnen
00303024 Pat69 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, childhood onset; age onset childhood NDUFA1 NDUFA1 1 1 Johan den Dunnen
00303025 Pat70 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, NOS; age onset unknown NDUFAF2 NDUFAF2 1 1 Johan den Dunnen
00303026 Pat71 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown NDUFB3 NDUFB3 2 1 Johan den Dunnen
00303027 Pat72 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood NGLY1 NGLY1 1 1 Johan den Dunnen
00303028 Pat73 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Generalized epilepsy, infantile onset; age onset infantile NOTCH1, WDR45 NOTCH1, WDR45 2 1 Johan den Dunnen
00303029 Pat74 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset neonatal PACS1 PACS1 1 1 Johan den Dunnen
00303030 Pat75 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal STXBP1 STXBP1 1 1 Johan den Dunnen
00303031 Pat76 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, unclassified; age onset childhood PANK2 PANK2 1 1 Johan den Dunnen
00303032 Pat77 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, temporal lobe epilepsy; age onset childhood STXBP1 STXBP1 1 1 Johan den Dunnen
00303033 Pat78 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Genetic Generalized Epilepsy; age onset childhood PKD1 PKD1 1 1 Johan den Dunnen
00303034 Pat79 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, unclassified; age onset childhood STXBP1 STXBP1 1 1 Johan den Dunnen
00303035 Pat80 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood PLP1 PLP1 1 1 Johan den Dunnen
00303036 Pat81 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Onset; age onset infantile SPAST SPAST 1 1 Johan den Dunnen
00303037 Pat82 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile POMC POMC 1 1 Johan den Dunnen
00303038 Pat83 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset neonatal TBCE TBCE 2 1 Johan den Dunnen
00303039 Pat84 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Progressive Myoclonus Epilepsy; age onset childhood PPT1 PPT1 2 1 Johan den Dunnen
00303040 Pat85 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Symptomatic seizures; age onset neonatal TBX19 TBX19 1 1 Johan den Dunnen
00303041 Pat86 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood PRNP PRNP 1 1 Johan den Dunnen
00303042 Pat87 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile SYNGAP1 SYNGAP1 1 1 Johan den Dunnen
00303043 Pat88 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile RARS2 RARS2 2 1 Johan den Dunnen
00303044 Pat89 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Focal epilepsy, unclassified; age onset unknown TPP1 TPP1 2 1 Johan den Dunnen
00303045 Pat90 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile RNF213 RNF213 1 1 Johan den Dunnen
00303046 Pat91 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood TPP1 TPP1 2 1 Johan den Dunnen
00303047 Pat92 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset infantile SCN1A SCN1A 1 1 Johan den Dunnen
00303048 Pat93 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Generalized epilepsy, infantile onset; age onset infantile TUBA1A TUBA1A 1 1 Johan den Dunnen
00303049 Pat94 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Dravet syndrome; age onset infantile SCN1A SCN1A 1 1 Johan den Dunnen
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