Publications by authors named "Rosaria Nardello"

13Publications

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.

BMC Neurol 2020 Apr 26;20(1):155. Epub 2020 Apr 26.

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1186/s12883-020-01704-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183684PMC
April 2020

Migraine in children under 6 years of age: A long-term follow-up study.

Eur J Paediatr Neurol 2020 Jul 17;27:67-71. Epub 2020 Apr 17.

Child Neuropsychiatry Dept., P.O. Di Cristina, ARNAS Civico Palermo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.04.005DOI Listing
July 2020

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

Epileptic Disord 2020 Feb;22(1):111-115

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.1684/epd.2020.1138DOI Listing
February 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

Epileptic Disord 2019 Feb;21(1):87-91

Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro," University of Palermo, Palermo.

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http://dx.doi.org/10.1684/epd.2019.1030DOI Listing
February 2019

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Brain Dev 2018 Jan 26;40(1):58-64. Epub 2017 Jul 26.

Child Neuropsychiatry Unit, Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Palermo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.07.003DOI Listing
January 2018

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.

Epilepsia 2015 Feb 19;56(2):e15-20. Epub 2014 Dec 19.

Unit of Pharmacology, Department of Neuroscience, Reproductive Science and Dentistry, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1111/epi.12887DOI Listing
February 2015

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.

Gene 2014 Apr 29;538(2):373-8. Epub 2014 Jan 29.

Dipartimento di Scienze per la Promozione della Salute e Materno Infantile "G. D'ALESSANDRO", Universita' Degli Studi di Palermo, Palermo, Italy.

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http://dx.doi.org/10.1016/j.gene.2014.01.050DOI Listing
April 2014

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

BMC Neurol 2013 May 24;13:48. Epub 2013 May 24.

Department of Sciences for Health Promotion and Mother and Child Care G, D'Alessandro, Child Neuropsychiatry Unit, Università di Palermo, Palermo, Italy.

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http://dx.doi.org/10.1186/1471-2377-13-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672008PMC
May 2013