María Vaccarezza

Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group

Eric H. Kossoff, Beth Zupec‐Kania, Stéphane Auvin et al. · Epilepsia Open · 2018 · 737 citations · Full text

Medicine, Nutrition, Pediatrics +17

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Long-term follow-up of the ketogenic diet for refractory epilepsy: Multicenter Argentinean experience in 216 pediatric patients

Roberto Caraballo, María Vaccarezza, Ricardo Cersósimo et al. · Seizure · 2011 · 131 citations · Full text

Medicine, Neurology, Pediatrics +13

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Niklas Schwarz, Thomas Bast, Eija Gaily et al. · European Journal of Paediatric Neurology · 2019 · 55 citations · Full text

Life Sciences, Genetics, Neurology +10

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations

Juan Arredondo, Marian Lara, Sídney M. Gospe et al. · Human Mutation · 2015 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14