Carmen Fons

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 417 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro et al. · Orphanet Journal of Rare Diseases · 2015 · 152 citations · Full text

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

Eleni Panagiotakaki, Giuseppe Gobbi, Brian Neville et al. · Brain · 2010 · 142 citations · Full text

Neurological Disorder, Education, Cerebral Palsy +19

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng et al. · Brain · 2022 · 137 citations · Full text

Neurological Disorder, Scn1a Variants Cluster, Therapeutic Implications +18

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Ángela Arias, Marc Corbella, Carmen Fons et al. · Clinical Biochemistry · 2007 · 76 citations

Metabolic Syndrome, Creatine Transporter Deficiency, Metabolic Disorder +5