{"Name":"Developmental and epileptic encephalopathy, 13","DiseaseID__c":"GARD:0013085","id":13085,"encodedName":"developmental-and-epileptic-encephalopathy-13","IsDeleted":false,"Disease_Name_Full__c":"Developmental and epileptic encephalopathy, 13","Xref_IDs__c":"423022496; 765170001; C188139; C3281191; DOID:0080445; MEDGEN:482821; MONDO:0013801; OMIM:614558","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013801","Disease_Description__c":"Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.","GARD_Name__c":"Developmental and epileptic encephalopathy, 13","GARD_Synonym__c":"dee13; developmental and epileptic encephalopathy 13; early infantile epileptic encephalopathy 13; early infantile epileptic encephalopathy caused by mutation in scn8a; early infantile epileptic encephalopathy-13; eiee13; epileptic encephalopathy, early infantile, 13; epileptic encephalopathy, early infantile, type 13; scn8a developmental and epileptic encephalopathy; scn8a early infantile epileptic encephalopathy; scn8a-dee - scn8a - developmental and epileptic encephalopathy; scn8a-dee - sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy; scn8a-related epilepsy; sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy","Curated_Disease_Description_Source__c":"GARD:0013085","Curated_Disease_Description__c":"SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy. The seizures in SCN8A-related epilepsy with encephalopathy include involuntary muscle contractions that occur before age 1 (infantile spasms),  partial or complete loss of consciousness (absence seizures), involuntary muscle twitches (myoclonic seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people with SCN8A-related epilepsy with encephalopathy have more than one type of seizure. The frequency of seizures in different individuals with this condition ranges from hundreds per day to fewer than one per month. In many individuals, the seizures are described as refractory because they do not respond to therapy with anti-epileptic medications. Other signs and symptoms of SCN8A-related epilepsy with encephalopathy include intellectual disability that may be mild to severe. Some affected infants have normal early development but begin to lose previously acquired skills (developmental regression) and have a gradual loss in thinking ability (cognitive decline) when epilepsy develops. Problems with movement are common, and about half of affected infants cannot perform intentional movements. Behavior disorders may also occur. In rare cases, individuals with this condition die unexpectedly for no known reason (sudden unexpected death in epilepsy or SUDEP).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:614558","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013801","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy. The seizures in SCN8A-related epilepsy with encephalopathy include involuntary muscle contractions that occur before age 1 (infantile spasms),  partial or complete loss of consciousness (absence seizures), involuntary muscle twitches (myoclonic seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people with SCN8A-related epilepsy with encephalopathy have more than one type of seizure. The frequency of seizures in different individuals with this condition ranges from hundreds per day to fewer than one per month. In many individuals, the seizures are described as refractory because they do not respond to therapy with anti-epileptic medications. Other signs and symptoms of SCN8A-related epilepsy with encephalopathy include intellectual disability that may be mild to severe. Some affected infants have normal early development but begin to lose previously acquired skills (developmental regression) and have a gradual loss in thinking ability (cognitive decline) when epilepsy develops. Problems with movement are common, and about half of affected infants cannot perform intentional movements. Behavior disorders may also occur. In rare cases, individuals with this condition die unexpectedly for no known reason (sudden unexpected death in epilepsy or SUDEP).","Curated_Disease_Description_Source__c":"GARD:0013085","GARD_Synonym__c":"dee13; developmental and epileptic encephalopathy 13; early infantile epileptic encephalopathy 13; early infantile epileptic encephalopathy caused by mutation in scn8a; early infantile epileptic encephalopathy-13; eiee13; epileptic encephalopathy, early infantile, 13; epileptic encephalopathy, early infantile, type 13; scn8a developmental and epileptic encephalopathy; scn8a early infantile epileptic encephalopathy; scn8a-dee - scn8a - developmental and epileptic encephalopathy; scn8a-dee - sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy; scn8a-related epilepsy; sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy","Name":"Developmental and epileptic encephalopathy, 13","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Wishes for Elliott","Website__c":"https://www.wishesforelliott.com/"},{"Account_Name__c":"The Cute Syndrome Foundation","Website__c":"https://www.thecutesyndrome.com/"},{"Account_Name__c":"SCN8AEpilepsy and Related Disorders","Website__c":"https://scn8a.net/"},{"Account_Name__c":"Aaron's Ohtahara","Website__c":"https://sites.google.com/a/ohtahara.org/ohtahara2/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3281191"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013085","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK379665","Source__c":"Gene Review","Xref__c":"NBK379665"},{"URL__c":"https://www.omim.org/entry/614558","Source__c":"C3281191; MONDO:0013801","Xref__c":"OMIM:614558"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3281191","Source__c":"C3281191","Xref__c":"C3281191"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080445","Source__c":"MONDO:0013801","Xref__c":"DOID:0080445"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765170001","Source__c":"C3281191; MONDO:0013801","Xref__c":"765170001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482821","Source__c":"C3281191","Xref__c":"MEDGEN:482821"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C188139","Source__c":"C3281191","Xref__c":"C188139"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013801","Source__c":"GARD:0013085","Xref__c":"MONDO:0013801"},{"URL__c":"https://medlineplus.gov/genetics/condition/scn8a-related-epilepsy-with-encephalopathy","Source__c":"GARD:0013085","Xref__c":"https://medlineplus.gov/genetics/condition/scn8a-related-epilepsy-with-encephalopathy"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022496","Xref__c":"423022496"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN8A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scn8a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614558","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":"OMIM:614558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011169","HPO_Synonym__c":"Generalised clonic seizure; Generalised onset clonic seizure; Generalised-onset clonic seizure; Generalized clonic seizures; Generalized onset clonic seizure; Generalized-onset clonic seizure","HPO_Name__c":"Generalized clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011167","HPO_Synonym__c":"Focal tonic seizures; Local tonic seizures; Localised tonic seizure; Localized tonic seizure; Partial tonic seizure; Partial tonic seizures; Segmental tonic seizure","HPO_Name__c":"Focal tonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033258","HPO_Synonym__c":"SUDEP","HPO_Name__c":"Sudden unexpected death in epilepsy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:614558","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":"OMIM:614558","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":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010850","HPO_Name__c":"EEG with spike-wave complexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"OMIM:614558","Feature__r":{"HPO_Description__c":"A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200134","HPO_Synonym__c":"Convulsive encephalopathy","HPO_Name__c":"Epileptic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002187","HPO_Synonym__c":"Intellectual disability, profound; IQ less than 20; Mental retardation, profound; Profound mental retardation","HPO_Name__c":"Profound intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007334","HPO_Synonym__c":"Focal seizure with secondary generalization; Focal to bilateral tonic-clonic seizure; Generalised tonic-clonic seizure with focal onset; Generalised tonic-clonic seizure with partial onset; Generalized tonic-clonic seizure with focal onset; Generalized tonic-clonic seizure with partial onset; Generalized tonic-clonic seizures with focal onset; Partial seizure with secondary generalization; Partial seizures with secondary generalization; Secondarily generalized tonic-clonic seizure; Secondarily generalized tonic-clonic seizures; Secondary generalized tonic clonic seizures; Secondary generalized tonic-clonic seizures","HPO_Name__c":"Bilateral tonic-clonic seizure with focal onset","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020221","HPO_Name__c":"Clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:614558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Behavior that consists of repetitive acts, characterized by the feeling that one \\\"has to\\\" perform them, while being aware that these acts are not in line with one's overall goal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000722","HPO_Synonym__c":"Obsessive compulsive behavior; Obsessive compulsive disorder; Obsessive-compulsive behavior; Obsessive-compulsive disorder; OCD","HPO_Name__c":"Compulsive behaviors","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","Feature__r":{"HPO_Description__c":"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and sex-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000253","HPO_Synonym__c":"Microcephaly, postnatal, progressive; Microcephaly, progressive; Progressively abnormally small cranium; Progressively abnormally small skull","HPO_Name__c":"Progressive microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011097","HPO_Synonym__c":"Epileptic spasms; Salaam convulsion; Salaam convulsions; Salaam seizure; Salaam seizures","HPO_Name__c":"Epileptic spasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010841","HPO_Synonym__c":"Multifocal EEG abnormality","HPO_Name__c":"Multifocal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002121","HPO_Synonym__c":"Absence seizure; Absence seizures; Brief seizures with staring spells; Petit mal; Petit mal seizure; Petit mal seizures","HPO_Name__c":"Generalized non-motor (absence) seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032792","HPO_Name__c":"Tonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy","Neurodevelopmental disabilities"]},"synonyms":["dee13"," developmental and epileptic encephalopathy 13"," early infantile epileptic encephalopathy 13"," early infantile epileptic encephalopathy caused by mutation in scn8a"," early infantile epileptic encephalopathy-13"," eiee13"," epileptic encephalopathy, early infantile, 13"," epileptic encephalopathy, early infantile, type 13"," scn8a developmental and epileptic encephalopathy"," scn8a early infantile epileptic encephalopathy"," scn8a-dee - scn8a - developmental and epileptic encephalopathy"," scn8a-dee - sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy"," scn8a-related epilepsy"," sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy"]}