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List of works by Romina Combi

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.

scientific article published on 20 March 2018

A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy

scientific article published on 25 November 2011

A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?

scientific article published on July 2009

Analysis of Human Papillomavirus (HPV) 16 Variants Associated with Cervical Infection in Italian Women

scientific article published on 01 January 2020

CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients

scientific article published on 28 January 2008

Clinical and genetic evaluation of a family showing both autism and epilepsy.

scientific article

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

scientific article

Compound heterozygosity with dominance in the Corticotropin Releasing Hormone (CRH) promoter in a case of nocturnal frontal lobe epilepsy

scientific article published in September 2008

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

scientific article published on 9 May 2014

Does the Type of Multisystem Atrophy, Parkinsonism, or Cerebellar Ataxia Impact on the Nature of Sleep Disorders?

scientific article published on December 2016

Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy

scientific article published in June 2004

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

scientific article published in August 2002

Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene

scientific article

Functional characterization of a CRH missense mutation identified in an ADNFLE family

scientific article

Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE).

scientific article published on 23 September 2017

Long Non-Coding RNAs and Related Molecular Pathways in the Pathogenesis of Epilepsy

scientific article published on 02 October 2019

Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome

scientific article published on 01 January 2008

Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome.

scientific article published on 28 February 2009

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation

scientific article published on 07 March 2019

Molecular and Imaging Biomarkers in Alzheimer's Disease: A Focus on Recent Insights

scientific article published on 10 July 2020

Mutations of the orexin system, a regulator of sleep arousal, are not a common cause of ADNFLE.

scientific article

Nocturnal Frontal Lobe Epilepsy and the Acetylcholine Receptor ⬇️

scientific article published on November 1, 2012

Nocturnal frontal lobe epilepsy.

scientific article published in February 2014

Potassium Channels and Human Epileptic Phenotypes: An Updated Overview

scientific article

Potassium channels in the neuronal homeostasis and neurodegenerative pathways underlying Alzheimer's disease: An update

scientific article published on 17 December 2019

Simultaneous overexpression of human E5NT and ENTPD1 protects porcine endothelial cells against H2O2-induced oxidative stress and cytotoxicity in vitro

scientific article published on 4 April 2017

Sleep disorder-related headaches

scientific article published on 01 May 2019

The Synergistic Relationship between Alzheimer's Disease and Sleep Disorders: An Update

scientific article published on 02 April 2015

Two new putative susceptibility loci for ADNFLE.

scientific article published in October 2005

Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing

scientific article published on 02 March 2019

and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation

scientific article published on 12 February 2019

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