{"Name":"Progressive myoclonic epilepsy type 7","DiseaseID__c":"GARD:0017715","id":17715,"encodedName":"progressive-myoclonic-epilepsy-type-7","IsDeleted":false,"Disease_Name_Full__c":"Progressive myoclonic epilepsy type 7","Xref_IDs__c":"1208939001; C142804; C4015420; DOID:0111447; MEDGEN:863857; MONDO:0014521; OMIM:616187; ORPHA:435438","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014521","Disease_Description__c":"Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.","GARD_Name__c":"Progressive myoclonic epilepsy type 7","GARD_Synonym__c":"epilepsy, progressive myoclonic type 7; epm7; epm7 - epilepsy progressive myoclonic 7; kcnc1 progressive myoclonic epilepsy; meak; myoclonus epilepsy and ataxia due to potassium channel mutation; pme type 7; progressive myoclonic epilepsy caused by mutation in kcnc1; progressive myoclonic epilepsy due to kv3.1 deficiency; progressive myoclonus epilepsy type 7","Curated_Disease_Description_Source__c":"ORPHA:435438","Curated_Disease_Description__c":"A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:435438","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014521","ORPHANET_ID__c":"ORPHA:435438","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica progresiva tipo 7","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epilepsia mioclónica progresiva tipo 7","Spanish_GARD_Synonym__c":"emp tipo 7; epilepsia con mioclonías y ataxia por una mutación en el canal del potasio; epilepsia mioclónica progresiva por deficiencia de kv3.1; epilepsia progresiva con mioclonías tipo 7; epm7; meak","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, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.","Curated_Disease_Description_Source__c":"ORPHA:435438","GARD_Synonym__c":"epilepsy, progressive myoclonic type 7; epm7; epm7 - epilepsy progressive myoclonic 7; kcnc1 progressive myoclonic epilepsy; meak; myoclonus epilepsy and ataxia due to potassium channel mutation; pme type 7; progressive myoclonic epilepsy caused by mutation in kcnc1; progressive myoclonic epilepsy due to kv3.1 deficiency; progressive myoclonus epilepsy type 7","Name":"Progressive myoclonic epilepsy type 7","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"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:435438"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C142804","Source__c":"C4015420; MONDO:0014521","Xref__c":"C142804"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015420","Source__c":"C4015420","Xref__c":"C4015420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863857","Source__c":"C4015420","Xref__c":"MEDGEN:863857"},{"URL__c":"https://www.omim.org/entry/616187","Source__c":"C4015420; MONDO:0014521; ORPHA:435438","Xref__c":"OMIM:616187"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111447","Source__c":"MONDO:0014521","Xref__c":"DOID:0111447"},{"URL__c":"https://www.orpha.net/en/disease/detail/435438","Source__c":"C4015420; MONDO:0014521; ORPHA:435438","Xref__c":"ORPHA:435438"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208939001","Source__c":"C4015420","Xref__c":"1208939001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014521","Source__c":"GARD:0017715","Xref__c":"MONDO:0014521"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK619809","Source__c":"Gene Review","Xref__c":"NBK619809"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616187","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032794","HPO_Name__c":"Myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616187","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616187","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616187","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616187","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616187","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011198","HPO_Name__c":"EEG with generalized epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"OMIM:616187","HPO_Frequency__c":"Very frequent (80-99%)","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:616187","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","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":["epilepsy, progressive myoclonic type 7"," epm7"," epm7 - epilepsy progressive myoclonic 7"," kcnc1 progressive myoclonic epilepsy"," meak"," myoclonus epilepsy and ataxia due to potassium channel mutation"," pme type 7"," progressive myoclonic epilepsy caused by mutation in kcnc1"," progressive myoclonic epilepsy due to kv3.1 deficiency"," progressive myoclonus epilepsy type 7"]}