Helena Martins Custodio

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Helena Martins Custodio, Lisa M. Clayton, Ravishankara Bellampalli et al. · Brain · 2023 · 55 citations · Full text

Dravet Syndrome, Developmental Biology, Genetic Disorder +15

Postictal Psychosis in Epilepsy: A Clinicogenetic Study

Vera Braatz, Helena Martins Custodio, Costin Leu et al. · Annals of Neurology · 2021 · 30 citations · Full text

<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

Sara Zagaglia, Dora Steel, S. Krithika et al. · Neurology · 2021 · 27 citations · Full text

Late diagnoses of Dravet syndrome: How many individuals are we missing?

Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell et al. · Epilepsia Open · 2021 · 18 citations · Full text

Dravet Syndrome, Genetic Disorder, Genetics +13

SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility

Katri Silvennoinen, Despina Tsortouktzidis, Julika Pitsch et al. · Acta Neuropathologica · 2022 · 14 citations · Full text

Seizure Susceptibility, Neurogenomics, Neurological Disorder +20