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Dravet Syndrome

What is Dravet Syndrome?

Dravet Syndrome is a rare epileptic encephalopathy classified in 1989 by the International League Against Epilepsy (ILAE) as a "syndrome undetermined as to whether seizures are focal or generalized" and more recently as a "genetic and developmental epilepsy syndrome with onset in infancy."

 

Dravet Syndrome is a rare epileptic encephalopathy classified in 1989 by the International League Against Epilepsy (ILAE) as a "syndrome undetermined as to whether seizures are focal or generalized" and more recently as a "genetic and developmental epilepsy syndrome with onset in infancy."
Acknowledgement of Dravet Syndrome has not been added yet.
3.0http://www.ilae-epilepsy.org/ctf/dravet.html
Synonyms for Dravet Syndrome has not been added yet.
In up to 80% of cases, Dravet syndrome is caused by a mutation in the SCN1A gene, which codes for the neuronal voltage-gated sodium ion channel. Other syndromes, including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy, Borderline (SMEB) are also associated with a mutation of SCN1A and are generally considered to be a part of a spectrum disorder, with Dravet syndrome at the severe end of this spectrum.
Prolonged and frequent seizures; increased body temperature (intrinsic or extrinsic); seizures caused by photic stimulation or patterns; ataxia; behavioral issues; autistic traits.
In Dravet syndrome, (1) the seizure type is frequently clonic or hemi-clonic rather than generalized tonic-clonic; (2) the seizures are more prolonged and frequent, even when treated; and (3) hyperthermia is a triggering factor, even when temperature is moderate. The diagnosis is confirmed when other seizure types emerge. EEG, CT, MRI and metabolic studies are usually normal initially. EEG pattern, age of onset and initial seizure semiology distinguish SMEI from Lennox-Gastaut syndrome. While a diagnosis of Dravet syndrome is made clinically, a majority of cases will test positive for an SCN1A gene mutation, helping to confirm diagnosis.
Diagnostic tests of Dravet Syndrome has not been added yet
1. Avoid medications which may aggravate seizures in patients with Dravet syndrome. These include: lamotrigine (Lamictal); phenytoin (Dilantin, Epanutin); fosphenytoin (Cerebyx, Prodilantin); carbamazepine (Tegretol, Biston, Calepsin, Carbatrol, Epitol, Equetro, Finlepsin, Sirtal, Stazepine, Telesmin, Timonil); oxcarbazepine (Trileptal); vigabatrin (Sabril). *Please note, these drugs may be useful acutely in managing status episodes but are not generally helpful in chronic management. 2. Avoid epilepsy surgery as there is no identifiable focal abnormality. 3. Employ treatments shown to be useful for chronic seizure management in Dravet syndrome based on scientific literature. These include: topirimate (Topamax); valproic acid and derivatives (Depakote, Depakene, Convulex, MicopakineLP); stiripentol (Diacomit); clonazepam (Klonopin); clobazam (Frisium, Urbanyl, Mystan); leviteracetam (Keppra); bromides; ketogenic diet. 4. Consider treatments which may be helpful in Dravet syndrome, but which require further study. These include: vitamin B6 therapy; IVIG therapy; ethosuximide (Zarontin); zonisamide (Zonegran, Excegran) vagus nerve stimulation (VNS). 5. Implement an aggressive acute seizure management protocol, including a fast onset benzodiazepine (Diastat, nasal versed, buccal lorazepam) or paraldehyde for any convulsive seizure lasting longer than 5 minutes, and instructions for when to call 911/emergency dispatch, as well as when to transport to a medical facility. Written hospital seizure protocols should also be determined and are beneficial for patients to have with them at all times. 6. Manage the syndrome on a day-to-day basis by avoiding seizure triggers. Common triggers in Dravet syndrome include, but are not limited to, hyperthermia (from any cause), illness, stress, flickering lights, patterns, and temperature changes. Fevers should always be treated aggressively.
As children grow older, partial and myoclonic seizures may lessen, and in some cases disappear, but convulsive seizures typicaly persist. Communication, motor and cognitive functions stabilize, but significant delays remain to varying degrees. Despite being at an increased risk for accident, infection and sudden unexpected death in epilepsy (SUDEP), an individual with Dravet syndrome has an 85% chance of surviving into adulthood. Because this disorder is rare and has relatively recently been identified as a distinct syndrome, little is know about long term prognosis and life expectancy. A patient's outcome can be improved with early implementation of global therapies, including physical, occupational, speech and social/play therapies and an enriched environment. It is also important to employ treatment regimens with proven efficacy; develop and implement seizure management protocols; avoid seizure triggers; and manage the syndrome acutely.
Tips or Suggestions of Dravet Syndrome has not been added yet.
References of Dravet Syndrome has not been added yet.
Parent and Caregiver Support Created by idealeague
Last updated 5 Jan 2009, 12:42 AM

Posted by idealeague
5 Jan 2009, 12:42 AM

The International Dravet syndrome Epilepsy Action League (IDEA League) is committed to promoting awareness of Dravet syndrome and the need for early diagnosis and appropriate treatment for this catastrophic disorder. Formed by a group of parents and backed by leading medical experts, including Dr. Charlotte Dravet, the IDEA League is the only organization in the world dedicated to providing services, resources and support specifically for children with Dravet syndrome and their families. The IDEA League is committed to family and professional education, as well as supporting research towards a cure for Dravet syndrome. Our website offers private on-line support forums for families and caregivers in three languages (English, Spanish and French). Here, members can exchange information and receive advice from other families from around the world dealing with the same issues and concerns. By joining our mailing list, you will receive quarterly newsletters with the latest news, developments and research in Dravet syndrome. I invite you to visit our website to learn more at www.idea-league.org. Sincerely, Mary Anne Meskis Executive Director

Community External News Link
Title Date Link
Dravet Syndrome: Community rallies around 3-year old battling rare disorder 08/25/2018
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The IDEA League

Formed by a group of parents and backed by leading medical experts, the IDEA League is the only organization in the world dedicated to providing services, education and research specifically for patients with Dravet syndrome and their families.

 

 

03/20/2017

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Parent and Caregiver Support

Created by idealeague | Last updated 5 Jan 2009, 12:42 AM


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