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Potentially life-threatening emergency
Dravet syndrome
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Potentially life-threatening emergency

Dravet syndrome

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Contributors: Bo Hoon Lee MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Dravet syndrome (previously known as severe myoclonic epilepsy of infancy; SMEI) is a genetic early-onset epileptic encephalopathy most commonly (approximately 80%) caused by mutations in the SCN1A gene, which encodes a voltage-gated sodium channel. Dravet syndrome is being increasingly recognized but remains rare with an incidence of about 1:15 700 in the United States.

Seizure onset occurs within the first year of life in an otherwise normally developing infant. All seizure types can occur and are often resistant to antiepileptic drugs. The course of epilepsy tends to follow a pattern of febrile seizures at initial diagnosis, followed by a "catastrophic" phase of multiple seizure types that are poorly responsive to medication, followed by relative stabilization after about 5 years. Developmental delay becomes apparent within the second year of life and behavioral problems can be prominent. Other neurologic signs include hypotonia, ataxia, and myoclonus. A later-onset gait deterioration and a characteristic "crouch gait" stance have been described. Patients may have a family history of epilepsy or febrile seizures.

For more information, see OMIM.

Codes

ICD10CM:
G40.311 – Generalized idiopathic epilepsy and epileptic syndromes, intractable, with status epilepticus
G40.319 – Generalized idiopathic epilepsy and epileptic syndromes, intractable, without status epilepticus

SNOMEDCT:
230437002 – Severe myoclonic epilepsy in infancy

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Benign myoclonic epilepsy of infancy
  • Epilepsy with myoclonic-astatic seizures – Doose syndrome
  • Progressive myoclonic epilepsy syndromes – Unverricht-Lundborg disease, Lafora body disease, neuronal ceroid lipofuscinoses
  • Lennox-Gastaut syndrome
  • Ohtahara syndrome
  • Infantile spasms – West syndrome
  • Other genetic epilepsy syndromes – PCDH19, ARX, KCNQ2, KCNT1, CDKL5, etc

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 08/08/2018
Last Updated: 09/06/2018
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Potentially life-threatening emergency
Dravet syndrome
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Dravet syndrome (Infancy)
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