From genotype to phenotype in Dravet disease

@article{Gataullina2017FromGT,
  title={From genotype to phenotype in Dravet disease},
  author={Svetlana Gataullina and Olivier Dulac},
  journal={Seizure},
  year={2017},
  volume={44},
  pages={58-64}
}
Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within the first year of life, often triggered by hyperthermia whatever its cause, including pertussis vaccination. Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. Massive myoclonus, rare absences, complex partial seizures and generalized spikes may appear several years later. Myoclonic status may occur in childhood, but acute… CONTINUE READING
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