{"Name":"Developmental and/or epileptic encephalopathy with spike-wave activation in sleep","DiseaseID__c":"GARD:0027304","id":27304,"encodedName":"developmental-andor-epileptic-encephalopathy-with-spike-wave-activation-in-sleep","IsDeleted":false,"Disease_Name_Full__c":"Developmental and/or epileptic encephalopathy with spike-wave activation in sleep","Xref_IDs__c":"C5552731; MEDGEN:1790601; MONDO:0800501; ORPHA:725","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Developmental and/or epileptic encephalopathy with spike-wave activation in sleep","GARD_Synonym__c":"continuous slow spike and wave of sleep; continuous spike and waves during slow-wave sleep syndrome; continuous spike-wave during slow sleep syndrome; continuous spike-wave in sleep; continuous spikes and waves during sleep; continuous spikes and waves during slow-wave sleep; csws; cswss syndrome; dee-swas; developmental and epileptic encephalopathy with spike-wave activation in sleep; ee-swas; ee-swas - epileptic encephalopathy with spike-and-wave activation in sleep; eeswas; electrical status epilepticus of sleep; electrographic status epilepticus in sleep; electrographic status epilepticus of sleep; epileptic aphasia; epileptic encephalopathy with continuous spike-and-wave during slow sleep; epileptic encephalopathy with spike and wave activation in sleep; epileptic encephalopathy with spike-and-wave activation in sleep; eses index; eses with language regression; lk syndrome; lks","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"A rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0800501","ORPHANET_ID__c":"ORPHA:725","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía epiléptica y del desarrollo con activación de punta-onda durante el sueño","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalopatía epiléptica y del desarrollo con activación de punta-onda durante el sueño","Spanish_GARD_Synonym__c":"csws; dee-swas; encefalopatía epiléptica con activación de punta-onda durante el sueño; encefalopatía epiléptica con punta-onda continua durante el sueño lento; punta-onda continua durante el sueño lento; puntas y ondas continuas durante el sueño; síndrome cswss","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":"A rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy).","GARD_Synonym__c":"continuous slow spike and wave of sleep; continuous spike and waves during slow-wave sleep syndrome; continuous spike-wave during slow sleep syndrome; continuous spike-wave in sleep; continuous spikes and waves during sleep; continuous spikes and waves during slow-wave sleep; csws; cswss syndrome; dee-swas; developmental and epileptic encephalopathy with spike-wave activation in sleep; ee-swas; ee-swas - epileptic encephalopathy with spike-and-wave activation in sleep; eeswas; electrical status epilepticus of sleep; electrographic status epilepticus in sleep; electrographic status epilepticus of sleep; epileptic aphasia; epileptic encephalopathy with continuous spike-and-wave during slow sleep; epileptic encephalopathy with spike and wave activation in sleep; epileptic encephalopathy with spike-and-wave activation in sleep; eses index; eses with language regression; lk syndrome; lks","Name":"Developmental and/or epileptic encephalopathy with spike-wave activation in slee","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"GRIN-Portal","Website__c":"https://grin-portal.lalresearchgroup.org/"},{"Account_Name__c":"GRIN2B Foundation","Website__c":"http://grin2b.com/"},{"Account_Name__c":"CureGRIN","Website__c":"https://www.curegrin.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":"Childhood","Provided_By__c":"ORPHA:725"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001513","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK385627","Source__c":"Gene Review","Xref__c":"NBK385627"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800501","Source__c":"GARD:0027304","Xref__c":"MONDO:0800501"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1790601","Source__c":"C5552731","Xref__c":"MEDGEN:1790601"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1344865008","Source__c":"C5552731","Xref__c":"1344865008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5552731","Source__c":"C5552731","Xref__c":"C5552731"},{"URL__c":"https://www.orpha.net/en/disease/detail/725","Source__c":"MONDO:0800501","Xref__c":"ORPHA:725"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GRIN2A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/grin2a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of previously present motor (i.e., movement) abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002333","HPO_Synonym__c":"Progressive degeneration of movement","HPO_Name__c":"Motor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000729","HPO_Synonym__c":"ASD; Pervasive developmental disorder","HPO_Name__c":"Autistic behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002266","HPO_Synonym__c":"Focal clonic seizures; Localized clonic seizure; Partial clonic seizure; Segmental clonic seizure","HPO_Name__c":"Focal clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011098","HPO_Synonym__c":"Apraxia of speech; Verbal dyspraxia","HPO_Name__c":"Speech apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","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:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012001","HPO_Name__c":"EEG with generalized polyspikes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Motor hyperactivity with excessive movement of muscles of the body as a whole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002487","HPO_Synonym__c":"Hyperactive movements; Hyperkinesia; Hyperkinesis","HPO_Name__c":"Hyperkinetic movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012557","HPO_Name__c":"EEG with centrotemporal focal spike waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized 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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007270","HPO_Synonym__c":"Atypical absence; Atypical absence seizures; Atypical petit mal seizures","HPO_Name__c":"Atypical absence seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011182","HPO_Synonym__c":"Epileptiform EEG discharges","HPO_Name__c":"Interictal epileptiform activity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012010","HPO_Name__c":"EEG with frontal focal spike waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001345","HPO_Name__c":"Psychotic mentation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","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:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment in the physical production of speech sounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009088","HPO_Name__c":"Speech articulation difficulties","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031491","HPO_Synonym__c":"CSWS; Electrical status epilepticus during slow-wave sleep","HPO_Name__c":"Continuous spike and waves during slow sleep","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006813","HPO_Synonym__c":"Hemiclonic seizure; Hemiclonic seizures; Unilateral clonic seizure; Unilateral clonic seizures","HPO_Name__c":"Focal hemiclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:725","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:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011153","HPO_Synonym__c":"Focal motor seizures; Localized motor seizure; Localized motor seizures; Partial motor seizure; Partial motor seizures; Segmental motor seizure","HPO_Name__c":"Focal motor seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002349","HPO_Synonym__c":"Focal aware seizures; Focal seizure with retained awareness; Focal seizure without impairment of awareness; Focal seizure without impairment of consciousness or awareness; Focal seizures without impairment of consciousness or awareness; Partial seizure with retained awareness; Partial seizure without impairment of awareness; Simple partial seizure; Simple partial seizures","HPO_Name__c":"Focal aware seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010819","HPO_Synonym__c":"Astatic seizure; Astatic seizures; Atonic seizures; Drop attacks; Drop seizures; Hypotonic seizure","HPO_Name__c":"Atonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002384","HPO_Synonym__c":"Complex focal seizures; Complex partial seizure; Complex partial seizures; Dyscognitive seizures; Focal dyscognitive seizure; Focal impaired awareness seizures; Focal seizure with impairment of awareness; Focal seizure with loss of awareness; Focal seizures with impairment of consciousness or awareness; Localised dyscognitive seizure; Localised seizure with impaired awareness; Localised seizure with loss of awareness; Localized dyscognitive seizure; Localized seizure with impaired awareness; Localized seizure with loss of awareness; Partial dyscognitive seizure; Partial seizure with impairment of awareness; Partial seizure with loss of awareness","HPO_Name__c":"Focal impaired awareness 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":["continuous slow spike and wave of sleep"," continuous spike and waves during slow-wave sleep syndrome"," continuous spike-wave during slow sleep syndrome"," continuous spike-wave in sleep"," continuous spikes and waves during sleep"," continuous spikes and waves during slow-wave sleep"," csws"," cswss syndrome"," dee-swas"," developmental and epileptic encephalopathy with spike-wave activation in sleep"," ee-swas"," ee-swas - epileptic encephalopathy with spike-and-wave activation in sleep"," eeswas"," electrical status epilepticus of sleep"," electrographic status epilepticus in sleep"," electrographic status epilepticus of sleep"," epileptic aphasia"," epileptic encephalopathy with continuous spike-and-wave during slow sleep"," epileptic encephalopathy with spike and wave activation in sleep"," epileptic encephalopathy with spike-and-wave activation in sleep"," eses index"," eses with language regression"," lk syndrome"," lks"]}