{"Name":"Childhood absence epilepsy","DiseaseID__c":"GARD:0016667","id":16667,"encodedName":"childhood-absence-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Childhood absence epilepsy","Xref_IDs__c":"50866000; C128189; C4281785; DOID:0050708; DOID:1825; MEDGEN:924120; MONDO:0010826; OMIM:600131; OMIMPS:600131; ORPHA:64280","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010826","Disease_Description__c":"Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.","GARD_Name__c":"Childhood absence epilepsy","GARD_Synonym__c":"cae - childhood absence epilepsy; early onset absence epilepsy; pyknolepsy","Curated_Disease_Description_Source__c":"ORPHA:64280","Curated_Disease_Description__c":"Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day. Some affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever). In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:64280","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010826","ORPHANET_ID__c":"ORPHA:64280","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia de ausencia infantil","Spanish_Description_Source__c":"ORPHA:64280","Spanish_Description__c":"La epilepsia de ausencia infantil (EAI) es una epilepsia infantil familiar generalizada que se caracteriza por crisis de ausencia muy frecuentes (varias al día) y que, por lo general, se presenta en niños entre los 4 y 10 años de edad, con buen pronóstico en la mayoría de los casos.","Spanish_Disease_Name__c":"epilepsia de ausencia infantil","Spanish_GARD_Synonym__c":"picnolepsia","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day. Some affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever). In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks.","Curated_Disease_Description_Source__c":"ORPHA:64280","GARD_Synonym__c":"cae - childhood absence epilepsy; early onset absence epilepsy; pyknolepsy","Name":"Childhood absence epilepsy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Epilepsy Action","Website__c":"https://www.epilepsy.org.uk/"},{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.org/"},{"Account_Name__c":"CURE Epilepsy","Website__c":"https://www.cureepilepsy.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:64280"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:64280"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050708","Source__c":"MONDO:0010826","Xref__c":"DOID:0050708"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4281785","Source__c":"C4281785","Xref__c":"C4281785"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50866000","Source__c":"C4281785; MONDO:0010826","Xref__c":"50866000"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS600131","Source__c":"MONDO:0010826","Xref__c":"OMIMPS:600131"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1825","Source__c":"MONDO:0010826","Xref__c":"DOID:1825"},{"URL__c":"https://www.orpha.net/en/disease/detail/64280","Source__c":"C4281785; MONDO:0010826; ORPHA:64280","Xref__c":"ORPHA:64280"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=924120","Source__c":"C4281785","Xref__c":"MEDGEN:924120"},{"URL__c":"https://www.omim.org/entry/600131","Source__c":"ORPHA:64280","Xref__c":"OMIM:600131"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010826","Source__c":"GARD:0016667","Xref__c":"MONDO:0010826"},{"URL__c":"https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy","Source__c":"GARD:0016667","Xref__c":"https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C128189","Source__c":"C4281785","Xref__c":"C128189"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030218","HPO_Name__c":"Punding","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of actions or reactions of a person exhibited during social interactions with other individuals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012433","HPO_Synonym__c":"Abnormal social behavior; Abnormal social interactions","HPO_Name__c":"Abnormal social behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011147","HPO_Synonym__c":"Typical absence; Typical absence seizures","HPO_Name__c":"Typical absence seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006961","HPO_Synonym__c":"Head jerking; Jerking head movements","HPO_Name__c":"Jerky head movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010522","HPO_Synonym__c":"Reading disability","HPO_Name__c":"Dyslexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent, excessively negative, and critical thoughts of one's personal abilities, attributes, or any feature related to the self and self-attitude. The affected individual believes they are a lesser being compared to others in their social peer group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031469","HPO_Synonym__c":"Worthlessness","HPO_Name__c":"Low self-esteem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010848","HPO_Name__c":"EEG with spike-wave complexes (2.5-3.5 Hz)","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045084","HPO_Synonym__c":"Myoclonus of limbs","HPO_Name__c":"Limb myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007738","HPO_Name__c":"Uncontrolled eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002883","HPO_Synonym__c":"Rapid breathing","HPO_Name__c":"Hyperventilation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002373","HPO_Synonym__c":"Febrile convulsion; Febrile seizures; Fever induced seizures; Seizures, febrile, in early childhood; Seizures, generalized, associated with fever","HPO_Name__c":"Febrile seizure (within the age range of 3 months to 6 years)","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011150","HPO_Synonym__c":"Myoclonic absence; Myoclonic absences","HPO_Name__c":"Myoclonic absence seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010794","HPO_Name__c":"Impaired visuospatial constructive cognition","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:64280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["cae - childhood absence epilepsy"," early onset absence epilepsy"," pyknolepsy"]}