Abstract
We present two children who exhibited the characteristics of Dravet syndrome during infancy and young childhood, with SCN1A mutation, but nevertheless achieved seizure freedom for at least four years during adolescence. These patients had no episodes of convulsive status epilepticus with a duration of more than 30 minutes and their overall favourable seizure outcome may be related to the prevention of convulsive status epilepticus.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Anticonvulsants / therapeutic use
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Child, Preschool
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Drug Therapy, Combination
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Electroencephalography
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Epilepsy, Generalized / drug therapy*
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Epilepsy, Generalized / genetics
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Epilepsy, Generalized / psychology
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Female
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Humans
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Intellectual Disability / etiology
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Intellectual Disability / psychology
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Magnetic Resonance Imaging
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Male
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Mutation, Missense / genetics
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NAV1.1 Voltage-Gated Sodium Channel
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Nerve Tissue Proteins / genetics
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Seizures, Febrile / drug therapy*
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Seizures, Febrile / etiology*
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Seizures, Febrile / genetics
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Sodium Channels / genetics
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Syndrome
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Treatment Outcome
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Wechsler Scales
Substances
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Anticonvulsants
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NAV1.1 Voltage-Gated Sodium Channel
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Nerve Tissue Proteins
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SCN1A protein, human
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Sodium Channels