Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers

Author:

Sierra-Marcos A.,Ribosa-Nogué R.,Vidal-Robau N.,Aldecoa I.,Turón E.,Rodríguez-Santiago B.,Turón M.,Boronat S.,Molina-Porcel L.

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference20 articles.

1. Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features;Aljaafari;Epilepsia,2017

2. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome;Brunklaus;Brain,2012

3. Guidance on Dravet syndrome from infant to adult care: road map for treatment planning in Europe;Cardenal-Munoz;Epilepsia Open,2022

4. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology;Catarino;Brain,2011

5. Catterall, W.A., 2012. Sodium channel mutations and epilepsy. In: Noebels, J.L., Avoli, M., Rogawski, M.A., Olsen, R.W., Delgado-Escueta, A.V. (Eds.), Jasper's Basic Mechanisms of the Epilepsies. 4th ed. Bethesda (MD).

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