While simple SCN1A sequencing is appropriate when all clinical criteria are met, an epilepsy gene panel is the expert preference for children with suspected DS. Following testing, consultation with a genetic counselor is recommended. Genetic testing is recommended in patients of ALL ages, including in adults with a suspected diagnosis but for whom a detailed history of presentation in infancy may be limited.
An epilepsy panel will test for SCN1A as well as many other genes commonly associated with epilepsy. If you suspect your loved one might have Dravet syndrome, ask your neurologist about testing, which is available through your doctor or commercially.
History of seizures prior to 18 months of age and later emergence of myoclonic and/or absence seizures. 2 seizures of any length that seem to affect alternating sides of the body. 1 prolonged seizure and any hemi-clonic (sustained, rhythmic jerking of one side of the body) seizure by 1 year of age. 2 or more prolonged seizures by 1 year of age. GENETIC TESTINGīecause many of these criteria are not apparent in the first year of life and infants with Dravet syndrome initially experience typical development, genetic testing via an epilepsy panel should be considered in patients exhibiting any of the following: Other earmarks of the syndrome include seizures associated with vaccinations, fever, hot baths, or warm temperatures developmental slowing, stagnation, or regression after the first year of life behavioral issues and speech delay. Failure to respond to first-line antiepileptic drug therapy with continued seizures after 2 years of age. Two or more seizures lasting longer than 10 minutes. Seizure history consisting of myoclonic, hemiclonic, or generalized tonic-clonic seizures. Two or more seizures with or without fever before 1 year of age. Normal or near-normal cognitive and motor development before seizure onset. Ĭlinical diagnostic criteria include at least 4 of the following: Dravet syndrome can more rarely be associated with mutations in genes other than SCN1A. Dravet syndrome lies at the more severe end of the spectrum of SCN1A-related disorders. Mutations in SCN1A can lead to a spectrum of disorders ranging from migraines, childhood epilepsy, or more severe and life-long epilepsy syndromes. Over 80% of those diagnosed with Dravet syndrome have an SCN1A mutation (1:20,900), but the presence of a mutation alone is not sufficient for diagnosis, nor does the absence of a mutation exclude the diagnosis. Research for improved treatments, particularly disease-modifying treatments, offers patients and families hope for a better quality of life for their loved oneĭravet syndrome is a clinical diagnosis that affects 1:15,700 infants born in the US. Patients with Dravet syndrome face a 15-20% mortality rate due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, seizure-related accidents such as drowning, and infections. Dysautonomia, or disruptions of the autonomic nervous system which can lead to difficulty regulating body temperature, heart rate, blood pressure, and other issuesĬurrent treatment options are limited, and the constant care required for someone suffering from Dravet syndrome can severely impact the patient’s and the family’s quality of life. Common issues associated with Dravet syndrome include: As with all developmental and epileptic encephalopathies, Dravet syndrome includes more than just difficult to control seizures. Other comorbidities such as developmental delay and abnormal EEGs often emerge during the second or third year of life. Patients present with a variety of seizure types that generally evolve with age. Seizures are frequently prolonged, and are not well managed with current medications. Seizures in Dravet syndrome usually begin during the first 2-15 months of life, often in the presence of fever or warm temperatures. ĭravet syndrome is classified as a developmental and epileptic encephalopathy (also known as a DEE), which is part of a group of severe epilepsies with frequent and difficult to treat seizures and significant developmental delays. 
Dravet syndrome is a rare disease, with an estimated incidence rate of 1:15,700, with the majority of patients carrying a mutation in the sodium channel gene SCN1A. Donation Matching, Legacy Giving, & Unique Givingĭravet syndrome, previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), is an intractable developmental and epileptic encephalopathy that begins in infancy and proceeds with accumulating morbidity that significantly impacts individuals throughout their lifetime.Collaboration Opportunities for Industry.
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