{"Name":"Benign familial neonatal-infantile seizures 1","DiseaseID__c":"GARD:0000856","id":856,"encodedName":"benign-familial-neonatal-infantile-seizures-1","IsDeleted":false,"Disease_Name_Full__c":"Benign familial neonatal-infantile seizures 1","Xref_IDs__c":"C4551769; DOID:0081114; MEDGEN:1638448; MONDO:0042499; OMIM:601764","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:601764","Disease_Description__c":"Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal ({3:Franzoni et al., 2005}).\\n\\nSee also benign familial neonatal seizures (BFNS1; {121200}).\\n\\n{1:Deprez et al. (2009)} provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.\\n\\n<Subhead> Genetic Heterogeneity of Benign Familial Infantile Seizures\\n\\nThe BFIS1 locus has been mapped to chromosome 19q. BFIS2 ({605751}) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 ({607745}), which is caused by the mutations in the SCN2A gene ({182390}) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 ({612627}) has been mapped to chromosome 1p. BFIS5 ({617080}) is caused by mutation in the SCN8A gene ({600702}) on chromosome 12q13. BFIS6 (see {610353}) is caused by mutation in the CHRNA2 gene ({118502}) on chromosome 8p21.","GARD_Name__c":"Benign familial neonatal-infantile seizures 1","GARD_Synonym__c":"seizures, benign familial infantile, 1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Benign familial infantile seizures (BFIS) is a type of seizure disorder that affects young children, typically between 3 and 24 months of age. Seizures are when the body has sudden movements and changes in breathing. They can happen in clusters over a day or several days. Seizures start with the head and eyes moving slowly to one side and then progress to the body stopping moving and breathing. The body may also turn blue and have jerking movements. After the seizure, the baby will be normal again. The EEG test may show that there was unusual activity in a specific part of the brain during a seizure, but the brain activity was normal when there was no seizure. However, the person's mental and physical development was normal during and after the seizure. BFIS is a genetic disorder, and there are different types caused by variations in different genes. BFIS1 is caused by a mutation in a gene on chromosome 19q. BFIS2 is caused by a mutation in the PRRT2 gene on chromosome 16p11. BFIS3 is caused by mutations in the SCN2A gene on chromosome 2q24 and has a slightly earlier age at onset. BFIS4 has been mapped to chromosome 1p, and BFIS5 is caused by a mutation in the SCN8A gene on chromosome 12q13. BFIS6 is caused by a mutation in the CHRNA2 gene on chromosome 8p21.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601764","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0042499","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":"Benign familial infantile seizures (BFIS) is a type of seizure disorder that affects young children, typically between 3 and 24 months of age. Seizures are when the body has sudden movements and changes in breathing. They can happen in clusters over a day or several days. Seizures start with the head and eyes moving slowly to one side and then progress to the body stopping moving and breathing. The body may also turn blue and have jerking movements. After the seizure, the baby will be normal again. The EEG test may show that there was unusual activity in a specific part of the brain during a seizure, but the brain activity was normal when there was no seizure. However, the person's mental and physical development was normal during and after the seizure. BFIS is a genetic disorder, and there are different types caused by variations in different genes. BFIS1 is caused by a mutation in a gene on chromosome 19q. BFIS2 is caused by a mutation in the PRRT2 gene on chromosome 16p11. BFIS3 is caused by mutations in the SCN2A gene on chromosome 2q24 and has a slightly earlier age at onset. BFIS4 has been mapped to chromosome 1p, and BFIS5 is caused by a mutation in the SCN8A gene on chromosome 12q13. BFIS6 is caused by a mutation in the CHRNA2 gene on chromosome 8p21.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"seizures, benign familial infantile, 1","Name":"Benign familial neonatal-infantile seizures 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FamilieSCN2A","Website__c":"https://scn2a.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000856","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551769","Source__c":"C4551769","Xref__c":"C4551769"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1638448","Source__c":"C4551769","Xref__c":"MEDGEN:1638448"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081114","Source__c":"MONDO:0042499","Xref__c":"DOID:0081114"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0042499","Source__c":"GARD:0000856","Xref__c":"MONDO:0042499"},{"URL__c":"https://www.omim.org/entry/601764","Source__c":"C4551769; MONDO:0042499","Xref__c":"OMIM:601764"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601764","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601764","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601764","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:601764","Feature__r":{"HPO_Description__c":"Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002372","HPO_Name__c":"Normal interictal EEG","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"OMIM:601764","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"}},{"Provided_By__c":"OMIM:601764","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":"OMIM:601764","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy"]},"synonyms":["seizures, benign familial infantile, 1"]}