{"Name":"Benign neonatal seizures","DiseaseID__c":"GARD:0001519","id":1519,"encodedName":"benign-neonatal-seizures","IsDeleted":false,"Disease_Name_Full__c":"Benign neonatal seizures","Xref_IDs__c":"279953009; 38281008; C0220669; C117307; DOID:14264; DOID:14777; MEDGEN:65082; MONDO:0016027; OMIMPS:121200; ORPHA:1949","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016027","Disease_Description__c":"Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.","GARD_Name__c":"Benign neonatal seizures","GARD_Synonym__c":"autosomal dominant form of benign neonatal seizures; benign familal neonatal seizures; benign familial convulsion; benign familial convulsions; benign familial neonatal convulsions; benign familial neonatal epilepsy; benign familial neonatal seizures; benign neonatal convulsions; benign neonatal familial convulsions; bfns; convulsions benign familial neonatal dominant form; familial neonatal seizures; seizures, benign familial neonatal; self-limited familial neonatal epilepsy; selfne - self-limited familial neonatal epilepsy","Curated_Disease_Description_Source__c":"MONDO:0016027","Curated_Disease_Description__c":"Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). This condition is often associated with generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing a combination of seizure types: tonic seizures, which are characterized by uncontrolled muscle stiffness and rigidity, and clonic seizures, which are characterized by uncontrolled jerking of the muscles. Seizure episodes in infants with BFNS typically begin with tonic stiffness and pauses in breathing (apnea) followed by clonic jerking.  A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading. Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1949","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016027","ORPHANET_ID__c":"ORPHA:1949","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia neonatal autolimitada","Spanish_Description_Source__c":"ORPHA:1949","Spanish_Description__c":"La epilepsia neonatal familiar benigna (BFNE) es un síndrome poco frecuente de epilepsia genética caracterizado por la presencia de crisis febriles en recién nacidos por lo demás sanos, en los primeros días de vida.","Spanish_Disease_Name__c":"epilepsia neonatal autolimitada","Spanish_GARD_Synonym__c":"convulsiones benignas neonatales familiares; crisis benignas neonatales familiares; epilpesia benigna neonatal familiar","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":"Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). This condition is often associated with generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing a combination of seizure types: tonic seizures, which are characterized by uncontrolled muscle stiffness and rigidity, and clonic seizures, which are characterized by uncontrolled jerking of the muscles. Seizure episodes in infants with BFNS typically begin with tonic stiffness and pauses in breathing (apnea) followed by clonic jerking.  A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading. Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.","Curated_Disease_Description_Source__c":"MONDO:0016027","GARD_Synonym__c":"autosomal dominant form of benign neonatal seizures; benign familal neonatal seizures; benign familial convulsion; benign familial convulsions; benign familial neonatal convulsions; benign familial neonatal epilepsy; benign familial neonatal seizures; benign neonatal convulsions; benign neonatal familial convulsions; bfns; convulsions benign familial neonatal dominant form; familial neonatal seizures; seizures, benign familial neonatal; self-limited familial neonatal epilepsy; selfne - self-limited familial neonatal epilepsy","Name":"Benign neonatal seizures","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"KCNQ2 Cure Alliance","Website__c":"https://www.kcnq2cure.org/"},{"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":"Neonatal","Provided_By__c":"ORPHA:1949"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001519","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201978","Source__c":"Gene Review","Xref__c":"NBK201978"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK32534","Source__c":"Gene Review","Xref__c":"NBK32534"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=279953009","Source__c":"MONDO:0016027","Xref__c":"279953009"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS121200","Source__c":"MONDO:0016027","Xref__c":"OMIMPS:121200"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=38281008","Source__c":"MONDO:0016027","Xref__c":"38281008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14777","Source__c":"MONDO:0016027","Xref__c":"DOID:14777"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65082","Source__c":"C0220669","Xref__c":"MEDGEN:65082"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220669","Source__c":"C0220669","Xref__c":"C0220669"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C117307","Source__c":"MONDO:0016027","Xref__c":"C117307"},{"URL__c":"https://www.orpha.net/en/disease/detail/1949","Source__c":"C0220669; MONDO:0016027; ORPHA:1949","Xref__c":"ORPHA:1949"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14264","Source__c":"MONDO:0016027","Xref__c":"DOID:14264"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230410004","Source__c":"C0220669","Xref__c":"230410004"},{"URL__c":"https://medlineplus.gov/genetics/condition/benign-familial-neonatal-seizures","Source__c":"GARD:0001519","Xref__c":"https://medlineplus.gov/genetics/condition/benign-familial-neonatal-seizures"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016027","Source__c":"GARD:0001519","Xref__c":"MONDO:0016027"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNQ2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNQ3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010818","HPO_Synonym__c":"Generalised hypertonic seizure; Generalized hypertonic seizure; Generalized tonic seizures","HPO_Name__c":"Generalized tonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031535","HPO_Name__c":"Increased theta frequency activity in EEG","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:1949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent blue color of the skin that surrounds the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032556","HPO_Synonym__c":"Bluish around mouth","HPO_Name__c":"Circumoral cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011171","HPO_Synonym__c":"Simple febrile convulsion; Simple febrile seizures; Simple fever fit","HPO_Name__c":"Simple febrile seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011154","HPO_Synonym__c":"Focal autonomic seizures","HPO_Name__c":"Focal autonomic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002169","HPO_Synonym__c":"Involuntary rhythmic muscular contractions and relaxations","HPO_Name__c":"Clonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Very frequent (80-99%)","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:1949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011188","HPO_Name__c":"Focal EEG discharges with secondary generalization","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Frequent (30-79%)","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:1949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure occurring within the neonatal period (28 days beyond the full term date).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032807","HPO_Name__c":"Neonatal seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1949","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011468","HPO_Synonym__c":"Cramping of facial muscles; Facial spasms; Facial tics; Jerking of facial muscles; Mimic spasms; Spasms of facial muscles; Twitching of facial muscles","HPO_Name__c":"Facial tics","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1949","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["autosomal dominant form of benign neonatal seizures"," benign familal neonatal seizures"," benign familial convulsion"," benign familial convulsions"," benign familial neonatal convulsions"," benign familial neonatal epilepsy"," benign familial neonatal seizures"," benign neonatal convulsions"," benign neonatal familial convulsions"," bfns"," convulsions benign familial neonatal dominant form"," familial neonatal seizures"," seizures, benign familial neonatal"," self-limited familial neonatal epilepsy"," selfne - self-limited familial neonatal epilepsy"]}