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DRVT
MCID: DRV001
MIFTS: 69
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Dravet Syndrome (DRVT)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Dravet Syndrome:
Characteristics:Orphanet epidemiological data:58
dravet syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age; OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
phenotypic variability onset in first year of life eeg may be normal at first psychomotor delay usually becomes apparent around 2 years of age psychomotor delay may be apparent at onset of seizures may be induced by fever or hot bath seizures are refractory to medical therapy de novo mutation (in most cases)
Inheritance:
autosomal dominant HPO:31
dravet syndrome:
Inheritance autosomal dominant inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases External Ids:
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NINDS :
53
Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI), is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe. Children with Dravet syndrome initially show focal (confined to one area) or generalized (throughout the brain) convulsive seizures that start before 15 months of age (often before age one). These initial seizures are often prolonged and involve half of the body, with subsequent seizures that may switch to the other side of the body. These initial seizures are frequently provoked by seizures or exposure to increased temperatures or temperature changes, such as getting out of a bath. Other seizure types emerge after 12 months of age and can be quite varied. Status epilepticus – a state of continuous seizure requiring emergency medical care – may occur frequently in these children, particularly in the first five years of life.
Children with Dravet syndrome typically have normal development in the first fews years of life. As seizures increase, the pace of acquiring skills slows and children start to lag in development behind their peers. Other symptoms can begin throughout childhood with changes in eating, appetitie, balance, and a crouched gait (walking).
In at least 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Mutations in the SCN1A gene (a gene that encodes as a sodium channel, a part of the cell membrane involved in nervous system function) are the primary causes of Dravet syndrome. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) but which is much less severe, are caused by defects in the same gene. Dravet syndrome is a lifelong condition.
MalaCards based summary : Dravet Syndrome, also known as severe myoclonic epilepsy of infancy, is related to genetic epilepsy with febrile seizures plus and febrile seizures, and has symptoms including ataxia, myoclonic seizures and absence seizures. An important gene associated with Dravet Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Dopaminergic synapse and G-Beta Gamma Signaling. The drugs Strawberry and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are developmental regression and progressive gait ataxia Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has material basis in heterozygous mutation in the SCN1A gene on chromosome 2q24. GARD : 20 Dravet syndrome is the most severe of a group of conditions known as SCN1A-related seizure disorders. Symptoms include seizures which first occur in infancy that are often triggered by high temperatures (febrile seizures). In childhood, many types of seizures may occur and they may increase in frequency. Seizures may be difficult to treat. Other symptoms include loss of motor skills, intellectual disability, speech impairment, and difficulty with movement. Most cases of Dravet syndrome occur when the SCN1A gene is not working correctly. It can be inherited in an autosomal dominant pattern, but most people with Dravet syndrome do not have a family history of the condition. Diagnosis is based on a clinical exam, medical history, and the results of genetic testing. The main goal of treatment is to reduce the number and length of seizures. OMIM® : 57 Dravet syndrome, first described by Dravet (1978), is a clinical term for a severe neurologic disorder characterized by the onset of seizures in the first year of life after normal early development. Affected individuals usually present with generalized tonic, clonic, and tonic-clonic seizures that may initially be induced by fever and are usually refractory to treatment. Later, patients tend to manifest other seizure types, including absence, myoclonic, and partial seizures. The EEG is often normal at first, but later characteristically shows generalized spike-wave activity and other abnormalities. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline, behavioral problems, and learning disabilities (summary by Dravet et al., 1992; Sugawara et al., 2002; Harkin et al., 2007; Shbarou and Mikati, 2016). 'Severe myoclonic epilepsy of infancy' (SMEI) and 'migrating partial seizures of infancy' (MPSI) are other clinical manifestations of Dravet syndrome (summary by Ohmori et al., 2002; Carranza Rojo et al., 2011; Dravet et al., 2011). Although most cases of Dravet syndrome are caused by mutation in the SCN1A gene, there are other developmental and epileptic encephalopathies (DEEs) with clinical features similar to Dravet syndrome that are caused by mutations in other genes (summary by Steel et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350. (607208) (Updated 05-Mar-2021) KEGG : 36 The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised tonic-clonic status epilepticus, followed by the development of other seizure types including myoclonic, focal, absence and atonic seizures between 1-4 years. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years. Development is normal in the first year of life with subsequent developmental slowing and sometimes regression. Approximately 80% of patients have point mutations or small insertions or deletions in the SCN1A gene. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 6: A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. Intractable childhood epilepsy with generalized tonic-clonic seizures: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. Wikipedia : 74 Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal... more... |
Human phenotypes related to Dravet Syndrome:58 31 (show top 50) (show all 68)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:607208 (Updated 05-Mar-2021)UMLS symptoms related to Dravet Syndrome:ataxia, myoclonic seizures, absence seizures MGI Mouse Phenotypes related to Dravet Syndrome:46
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Drugs for Dravet Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 14)
Interventional clinical trials:(show all 37)
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MalaCards organs/tissues related to Dravet Syndrome:40
Brain,
Heart,
Skin,
Cortex,
Skeletal Muscle,
Subthalamic Nucleus,
Dorsal Root Ganglion
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Articles related to Dravet Syndrome:(show top 50) (show all 1100)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Dravet Syndrome:6 (show top 50) (show all 789)
UniProtKB/Swiss-Prot genetic disease variations for Dravet Syndrome:73 (show top 50) (show all 335)
Copy number variations for Dravet Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Dravet Syndrome.
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Pathways related to Dravet Syndrome according to KEGG:36
Pathways related to Dravet Syndrome according to GeneCards Suite gene sharing:(show all 15)
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Cellular components related to Dravet Syndrome according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Dravet Syndrome according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Dravet Syndrome according to GeneCards Suite gene sharing:(show all 12)
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