Human Phenotype
Ontology
Grandparent Node: Dialeptic seizure (HP:0011146) Grandparent Node: Generalized-onset seizure (HP:0002197) Parent Node: Generalized non-motor (absence) seizure (HP:0002121) ..Starting node .. Atypical absence seizure (HP:0007270)
Term ID:
7270
Name:
Atypical absence seizure
Synonym:
Atypical absence; Atypical absence seizures; Atypical petit mal seizures
Definition:
An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.
Comments:
Reference:
HP:0007270
Genes and Diseases: Child Nodes: ........Obtundation status (HP:0011151) Sister Nodes: ..obsolete Absence seizures with special features (HP:0011148) ..Typical absence seizure (HP:0011147) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0007270 HP:0007270 Atypical absence seizure 0 AP2M1 CL E G H 1173 564 OMIM:618587 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60 HP:0007270 HP:0007270 Atypical absence seizure 0 CACNA1A CL E G H 773 1388 ORPHA:2382 Lennox-Gastaut syndrome HP:0040282 - Frequent 449 HP:0007270 HP:0007270 Atypical absence seizure 0 CACNB4 CL E G H 785 1404 OMIM:607682 Epilepsy, idiopathic generalized, susceptibility to, 9 146 HP:0007270 HP:0007270 Atypical absence seizure 0 CACNB4 CL E G H 785 1404 OMIM:613855 Episodic ataxia, type 5 146 HP:0007270 HP:0007270 Atypical absence seizure 0 CEP85L CL E G H 387119 21638 OMIM:618873 LISSENCEPHALY 10; LIS10 1 HP:0007270 HP:0007270 Atypical absence seizure 0 CHD2 CL E G H 1106 1917 ORPHA:2382 Lennox-Gastaut syndrome HP:0040282 - Frequent 227 HP:0007270 HP:0007270 Atypical absence seizure 0 CLPB CL E G H 81570 30664 OMIM:619835 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A 38 HP:0007270 HP:0007270 Atypical absence seizure 0 CUX2 CL E G H 23316 19347 ORPHA:2382 Lennox-Gastaut syndrome HP:0040282 - Frequent HP:0007270 HP:0007270 Atypical absence seizure 0 DNM1 CL E G H 1759 2972 ORPHA:2382 Lennox-Gastaut syndrome HP:0040282 - Frequent 72 HP:0007270 HP:0007270 Atypical absence seizure 0 EPM2A CL E G H 7957 3413 ORPHA:501 Lafora disease HP:0040283 - Occasional 83 HP:0007270 HP:0007270 Atypical absence seizure 0 FRRS1L CL E G H 23732 1362 ORPHA:725 Continuous spikes and waves during sleep HP:0040282 - Frequent 4 HP:0007270 HP:0007270 Atypical absence seizure 0 GABRA1 CL E G H 2554 4075 ORPHA:33069 Dravet syndrome HP:0040282 - Frequent 134 HP:0007270 HP:0007270 Atypical absence seizure 0 GABRB3 CL E G H 2562 4083 OMIM:617113 Epileptic encephalopathy, early infantile, 43 57 HP:0007270 HP:0007270 Atypical absence seizure 0 GABRB3 CL E G H 2562 4083 ORPHA:2382 Lennox-Gastaut syndrome HP:0040282 - Frequent 57 HP:0007270 HP:0007270 Atypical absence seizure 0 GABRG2 CL E G H 2566 4087 ORPHA:33069 Dravet syndrome HP:0040282 - Frequent 139 HP:0007270 HP:0007270 Atypical absence seizure 0 GABRG2 CL E G H 2566 4087 ORPHA:1945 Rolandic epilepsy HP:0040284 - Very rare 139 HP:0007270 HP:0007270 Atypical absence seizure 0 GRIN2A CL E G H 2903 4585 ORPHA:725 Continuous spikes and waves during sleep HP:0040282 - Frequent 434 HP:0007270 HP:0007270 Atypical absence seizure 0 GRIN2A CL E G H 2903 4585 ORPHA:98818 Landau-Kleffner syndrome HP:0040283 - Occasional 434 HP:0007270 HP:0007270 Atypical absence seizure 0 GRIN2A CL E G H 2903 4585 ORPHA:1945 Rolandic epilepsy HP:0040284 - Very rare 434 HP:0007270 HP:0007270 Atypical absence seizure 0 HNRNPU CL E G H 3192 5048 OMIM:617391 Epileptic encephalopathy, early infantile, 54 39 HP:0007270 HP:0007270 Atypical absence seizure 0 KCNB1 CL E G H 3745 6231 OMIM:616056 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26 65 HP:0007270 HP:0007270 Atypical absence seizure 0 KCNMA1 CL E G H 3778 6284 OMIM:618596 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16 114 HP:0007270 HP:0007270 Atypical absence seizure 0 KCNT2 CL E G H 343450 18866 OMIM:617771 Epileptic encephalopathy, early infantile, 57 . 1 HP:0007270 HP:0007270 Atypical absence seizure 0 MAPK10 CL E G H 5602 6872 ORPHA:2382 Lennox-Gastaut syndrome HP:0040282 - Frequent 61 HP:0007270 HP:0007270 Atypical absence seizure 0 NHLRC1 CL E G H 378884 21576 ORPHA:501 Lafora disease HP:0040283 - Occasional 77 HP:0007270 HP:0007270 Atypical absence seizure 0 PAFAH1B1 CL E G H 5048 8574 ORPHA:95232 Lissencephaly due to LIS1 mutation HP:0040283 - Occasional 231 HP:0007270 HP:0007270 Atypical absence seizure 0 PCDH19 CL E G H 57526 14270 ORPHA:33069 Dravet syndrome HP:0040282 - Frequent 225 HP:0007270 HP:0007270 Atypical absence seizure 0 PCDH19 CL E G H 57526 14270 ORPHA:101039 Female restricted epilepsy with intellectual disability HP:0040283 - Occasional 225 HP:0007270 HP:0007270 Atypical absence seizure 0 PPP3CA CL E G H 5530 9314 OMIM:617711 Epileptic encephalopathy, infantile or early childhood, 1 2 HP:0007270 HP:0007270 Atypical absence seizure 0 SCN1A CL E G H 6323 10585 ORPHA:33069 Dravet syndrome HP:0040282 - Frequent 1053 HP:0007270 HP:0007270 Atypical absence seizure 0 SCN1A CL E G H 6323 10585 ORPHA:2382 Lennox-Gastaut syndrome HP:0040282 - Frequent 1053 HP:0007270 HP:0007270 Atypical absence seizure 0 SCN1B CL E G H 6324 10586 ORPHA:33069 Dravet syndrome HP:0040282 - Frequent 126 HP:0007270 HP:0007270 Atypical absence seizure 0 SCN1B CL E G H 6324 10586 OMIM:617350 Epileptic encephalopathy, early infantile, 52 . 126 HP:0007270 HP:0007270 Atypical absence seizure 0 SCN2A CL E G H 6326 10588 ORPHA:33069 Dravet syndrome HP:0040282 - Frequent 427 HP:0007270 HP:0007270 Atypical absence seizure 0 SCN9A CL E G H 6335 10597 ORPHA:33069 Dravet syndrome HP:0040282 - Frequent 318 HP:0007270 HP:0007270 Atypical absence seizure 0 SRPX2 CL E G H 27286 30668 ORPHA:1945 Rolandic epilepsy HP:0040284 - Very rare 50 HP:0007270 HP:0007270 Atypical absence seizure 0 TRIM8 CL E G H 81603 15579 OMIM:619428 FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS 1 HP:0007270 HP:0007270 Atypical absence seizure 0 UBE3A CL E G H 7337 12496 ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0040283 - Occasional 278 HP:0007270 HP:0007270 Atypical absence seizure 0 ZEB2 CL E G H 9839 14881 ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0040282 - Frequent 362 HP:0007270 HP:0007270 Atypical absence seizure 0 ZEB2 CL E G H 9839 14881 ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22 HP:0040282 - Frequent 362
Genes (31) :AP2M1 CACNA1A CACNB4 CEP85L CHD2 CLPB CUX2 DNM1 EPM2A FRRS1L GABRA1 GABRB3 GABRG2 GRIN2A HNRNPU KCNB1 KCNMA1 KCNT2 MAPK10 NHLRC1 PAFAH1B1 PCDH19 PPP3CA SCN1A SCN1B SCN2A SCN9A SRPX2 TRIM8 UBE3A ZEB2 Diseases (24) :OMIM:618587 ORPHA:2382 OMIM:607682 OMIM:613855 OMIM:618873 OMIM:619835 ORPHA:501 ORPHA:725 ORPHA:33069 OMIM:617113 ORPHA:1945 ORPHA:98818 OMIM:617391 OMIM:616056 OMIM:618596 OMIM:617771 ORPHA:95232 ORPHA:101039 OMIM:617711 OMIM:617350 OMIM:619428 ORPHA:98795 ORPHA:261552 ORPHA:261537
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.