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 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
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
