Blandine Dozières‐Puyravel

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Diane Doummar, Christel Dentel, Romane Lyautey et al. · European Journal of Human Genetics · 2020 · 40 citations · Full text

Biallelic Pde2a Variants, Neurology, Medicine +1

Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Blandine Dozières‐Puyravel, Hala Nasser, Monique Elmaleh et al. · Developmental Medicine & Child Neurology · 2019 · 39 citations · Full text

Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome

Stéphane Auvin, Blandine Dozières‐Puyravel, Andreja Avberšek et al. · Annals of Clinical and Translational Neurology · 2020 · 32 citations · Full text

Report of the first patient with a homozygous <i>OTUD7A</i> variant responsible for epileptic encephalopathy and related proteasome dysfunction

Philippine Garret, Frédéric Ebstein, Geoffroy Delplancq et al. · Clinical Genetics · 2020 · 31 citations

History of dietary treatment: Guelpa &amp; Marie first report of intermittent fasting for epilepsy in 1911

Sophie Höhn, Blandine Dozières‐Puyravel, Stéphane Auvin · Epilepsy & Behavior · 2019 · 25 citations

Nutrition, Health Policy, Clinical Nutrition +8