Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

(2015) Claudia Nesti et al.   HUMAN MOLECULAR GENETICS

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

(2015) Erika Fernández-Vizarra et al.   Frontiers in Genetics

Dravet syndrome-From epileptic encephalopathy to channelopathy

(2014) Andreas Brunklaus et al.   EPILEPSIA

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

(2014) Maria Andrea Desbats et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

(2013) Eija Gaily et al.   EPILEPSIA

The genetics of Dravet syndrome

(2011) Carla Marini et al.   EPILEPSIA

Dravet Syndrome and Mitochondrial Dysfunction

(2011) Manuel Castro-Gago et al.   JOURNAL OF CHILD NEUROLOGY

Dravet syndrome: Patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects

(2011) Alexa K. Craig et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics