Carla Marini

Research interests

Publications

• 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

• The phenotype of SCN8A developmental and epileptic encephalopathy

  Neurology · 2018 · https://doi.org/10.1212/wnl.0000000000006199

• Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

  The American Journal of Human Genetics · 2018 · https://doi.org/10.1016/j.ajhg.2018.10.023

• Mutations in GABRB3

  Neurology · 2017 · https://doi.org/10.1212/wnl.0000000000003565

• Definition and diagnostic criteria of sleep-related hypermotor epilepsy

  Neurology · 2016 · https://doi.org/10.1212/wnl.0000000000002666

• Phenotypic spectrum of GABRA1

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

• The phenotypic spectrum of SCN8A encephalopathy

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

• CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001305

• Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

  Human Molecular Genetics · 2015 · https://doi.org/10.1093/hmg/ddv245

• The role of SLC 2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT 1 deficiency syndrome

  Epilepsia · 2015 · https://doi.org/10.1111/epi.13222

• Early and effective treatment of KCNQ 2 encephalopathy

  Epilepsia · 2015 · https://doi.org/10.1111/epi.12984

• The phenotypic spectrum of SCN8A encephalopathy

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

• 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

• Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

  Brain · 2010 · https://doi.org/10.1093/brain/awq078

• Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

  Annals of Neurology · 2004 · https://doi.org/10.1002/ana.20029

• Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

  Nature Genetics · 2001 · https://doi.org/10.1038/ng0501-49

Current projects

No projects listed.