Pasquale Striano

Research interests

Publications

• A second update on mapping the human genetic architecture of COVID-19

  Nature · 2023 · https://doi.org/10.1038/s41586-023-06355-3

• Mapping the human genetic architecture of COVID-19

  Nature · 2021 · https://doi.org/10.1038/s41586-021-03767-x

• Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

  Brain · 2021 · https://doi.org/10.1093/brain/awab321

• A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

  The American Journal of Human Genetics · 2019 · https://doi.org/10.1016/j.ajhg.2019.04.001

• Defining the phenotypic spectrum of SLC6A1 mutations

  Epilepsia · 2018 · https://doi.org/10.1111/epi.13986

• De novo variants in neurodevelopmental disorders with epilepsy

  Nature Genetics · 2018 · https://doi.org/10.1038/s41588-018-0143-7

• Neurologic phenotypes associated with COL4A1 / 2 mutations

  Neurology · 2018 · https://doi.org/10.1212/wnl.0000000000006567

• The landscape of epilepsy-related GATOR1 variants

  Genetics in Medicine · 2018 · https://doi.org/10.1038/s41436-018-0060-2

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain · 2017 · https://doi.org/10.1093/brain/awx054

• Phenotypic spectrum of GABRA1

  Neurology · 2016 · https://doi.org/10.1212/wnl.0000000000003087

• STXBP1 encephalopathy

  Neurology · 2016 · https://doi.org/10.1212/wnl.0000000000002457

• The phenotypic spectrum of SCN8A encephalopathy

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001211

• Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

  The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2015.02.016

• Mutations in KCNT 1 cause a spectrum of focal epilepsies

  Epilepsia · 2015 · https://doi.org/10.1111/epi.13071

• Extending the KCNQ2 encephalopathy spectrum

  Neurology · 2013 · https://doi.org/10.1212/01.wnl.0000435296.72400.a1

• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

  The American Journal of Human Genetics · 2013 · https://doi.org/10.1016/j.ajhg.2013.09.017

• Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

  Human Molecular Genetics · 2012 · https://doi.org/10.1093/hmg/dds373

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  New England Journal of Medicine · 2008 · https://doi.org/10.1056/nejmoa0805384

Current projects

No projects listed.