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From genotype to phenotype in Dravet disease

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1 From genotype to phenotype in Dravet disease
Svetlana Gataullina, Olivier Dulac  Seizure - European Journal of Epilepsy  Volume 44, Pages (January 2017) DOI: /j.seizure Copyright © 2016 British Epilepsy Association Terms and Conditions

2 Fig. 1 Schematic representation of clinical manifestations of Dravet syndrome and their relative incidence according to age. FSz—complex febrile seizures [6]; HS—hyperthermia sensitivity [9,16]; SE—convulsive status epilepticus [6]; GMS—generalized motor seizures [1]; MSz—myoclonic seizures [6]; AA—atypical absences [6,9]; CPS—complex partial seizures [1,6]; OS—obtundation status [1]; AE—acute encephalopathy [8]; DD—developmental delay [6]; CG—crouching gait [12]; Ataxia [1]; SUDEP—Sudden unexpected death in epilepsy [14]; *Moderate fever for 60% [1]; mostly clonic generalized and unilateral motor seizures; **Difficult distinction between atypical absences and complex partial seizures without ictal EEG recording, so their precise incidence is unknown; °Including generalized tonic–clonic and unilateral seizures [1]. However, unilateral seizures are less frequent after the age of 7 years, whereas sleep seizures increase after 6–7 years, and become predominant after age of 9–10 years [1]. Seizure - European Journal of Epilepsy  , 58-64DOI: ( /j.seizure ) Copyright © 2016 British Epilepsy Association Terms and Conditions

3 Fig. 2 Differential diagnosis of Dravet syndrome in the course of the disease: overlap of the epilepsy phenotype with other epilepsies beginning in infancy. Non-epileptic manifestations, except SUDEP, are not mentioned. *Gain-of-function; **Including unilateral hemi-clonic seizures; °Female patients; °°Applies mainly to SCN1A and SCN8A mutations, no data available showing a link with other genes; SE—Convulsive status epilepticus; CPS—Complex partial seizures; PS—Photosensitivity; Sz—Seizures; Sd—Syndrome; EIEE13—Early infantile epileptic encephalopathy 13; EFMR—Female restricted epilepsy and mental retardation. Seizure - European Journal of Epilepsy  , 58-64DOI: ( /j.seizure ) Copyright © 2016 British Epilepsy Association Terms and Conditions

4 Fig. 3 Treatment algorithm of epilepsy in Dravet syndrome.
VPA—valproate; TPM—topiramate; STP—stiripentol; LTG—lamotrigine; CZP—carbamazepine; OXC—oxcarbazepine; VGB—vigabatrine; PHB—phenobarbital; PHT—phenytoine; KD—ketogenic diet. Seizure - European Journal of Epilepsy  , 58-64DOI: ( /j.seizure ) Copyright © 2016 British Epilepsy Association Terms and Conditions


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