Publications by authors named "Elena Parrini"

51Publications

Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.

Eur J Paediatr Neurol 2020 Sep 3;28:237-239. Epub 2020 Aug 3.

Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2020.07.008DOI Listing
September 2020

Long-term follow-up of an individual with ITPR1-related disorder.

Am J Med Genet A 2020 07 4;182(7):1846-1847. Epub 2020 Jun 4.

Department of Translational Medicine, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61609DOI Listing
July 2020

Early infantile epileptic-dyskinetic encephalopathy due to biallelic mutations.

Neurol Genet 2020 Feb 2;6(1):e387. Epub 2020 Jan 2.

Pediatric Neurology (A.V., T.P., S.C., E. Parrini, D.M., S.V., R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Metabolic and Muscular Unit (E. Procopio), Meyer Children's Hospital, University of Florence; Department of Medical and Surgical Science (A.G.), University of Modena and Reggio Emilia; Pediatric Immunology (G.M., C.A.), Department of Health Sciences, Meyer Children's Hospital, University of Florence; and IRCCS Stella Maris (R.G.), Pisa, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984131PMC
February 2020

Lesional and non-lesional epilepsies: A blurring genetic boundary.

Eur J Paediatr Neurol 2020 Jan 12;24:24-29. Epub 2019 Dec 12.

Paediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital Anna Meyer-University of Florence, 50139, Florence, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2019.12.013DOI Listing
January 2020

A KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.

Front Pediatr 2019 6;7:348. Epub 2019 Sep 6.

Division of Neonatology and Neonatal Intensive Care Unit, Department of Maternal and Child Health, Santa Chiara Hospital, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.3389/fped.2019.00348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743415PMC
September 2019

What is the role of next generation sequencing in status epilepticus?

Epilepsy Behav 2019 12 9;101(Pt B):106373. Epub 2019 Jul 9.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, viale Pieraccini 24, 50139 Florence, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2019.06.017DOI Listing
December 2019

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.

Mol Genet Genomic Med 2019 06 6;7(6):e708. Epub 2019 May 6.

Department of Translational Medicine, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/mgg3.708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565554PMC
June 2019

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Eur J Hum Genet 2019 06 25;27(6):909-918. Epub 2019 Jan 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/s41431-019-0335-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777581PMC
June 2019

Diaper changing-induced reflex seizures in CDKL5-related epilepsy.

Epileptic Disord 2018 10;20(5):428-433

Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ep
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http://dx.doi.org/10.1684/epd.2018.0999DOI Listing
October 2018

PRICKLE1-related early onset epileptic encephalopathy.

Am J Med Genet A 2018 12 22;176(12):2841-2845. Epub 2018 Oct 22.

Department of Human Neuroscience, "Sapienza, University of Rome", Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.40625
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http://dx.doi.org/10.1002/ajmg.a.40625DOI Listing
December 2018

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.

Am J Med Genet A 2018 12 25;176(12):2808-2812. Epub 2018 Aug 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.40503
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http://dx.doi.org/10.1002/ajmg.a.40503DOI Listing
December 2018

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Eur J Paediatr Neurol 2018 Mar 31;22(2):264-271. Epub 2018 Jan 31.

Child Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, Giannina Gaslini Institute, University of Genoa, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.010DOI Listing
March 2018

Clinical features and outcome of 6 new patients carrying de novo gene mutations.

Neurol Genet 2017 Dec 11;3(6):e206. Epub 2017 Dec 11.

Pediatric Neurology Unit (C.M., E.P., D.M., F.M., T.M., E.C., S.V., D.D.V., R.G.), Neurogenetics and Neurobiology Laboratories, Neuroscience Department, A. Meyer Pediatric Hospital, University of Florence; Neurology Unit (M.R., C.C., P.C.), Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia; Child Neurology Service (L.P.), Hospital of Bolzano; Metabolic Unit (E.P.), A. Meyer Pediatric Hospital, Florence; Medical Genetics Unit (M.G.), Azienda Sanitaria Locale Bari; Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic Unit, Ospedale S. Maria della Misericordia, Perugia; Department of Experimental Neurosciences (P.C.), "Istituto di Ricovero e Cura a Carattere Scientifico," IRCCS Santa Lucia Foundation, Rome; and IRCCS Stella Maris Foundation (R.G.), Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733250PMC
December 2017

Lissencephaly: Expanded imaging and clinical classification.

Am J Med Genet A 2017 Jun 25;173(6):1473-1488. Epub 2017 Apr 25.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526446PMC
June 2017

encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Neurol Genet 2017 Apr 21;3(2):e143. Epub 2017 Mar 21.

Department of Paediatrics, Child Neurology and Psychiatry (F.R.D., S.G., V.L.), Sapienza University of Rome, Italy; Molecular Neurosciences, Developmental Neurosciences Programme (F.R.D., J.N., A.M., M.A.K.), University College London Institute of Child Health, UK; Department of Neurology (F.R.D., J.N., A.M., M.A.K.), Great Ormond Street Hospital for Children, London, UK; GENOMA Group (M.R.), Molecular Genetics Laboratory, Rome, Italy; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (M.M., E.P., C.B., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Italy; Department of Haematology (K.J.C.), University of Cambridge, NHS Blood and Transplant Centre, UK; NIHR Bioresource Rare Diseases (K.J.C., F.L.R.), University of Cambridge, UK; Department of Neurology (N.M.), Westmead Hospital, Sydney, Australia; Childrens Hospital Oxford (T.M.), John Radcliffe Hospital, UK; Institute for Neuroscience and Muscle Research (R.C.D., S.S.M., U.S.), the Children's Hospital at Westmead, University of Sydney, Australia; Department of Medical Genetics (F.L.R.), Cambridge Institute for Medical Research, University of Cambridge, UK; Department of Neurology (R.S.), University Hospitals Leicester NHS Trust, UK; Department of Paediatric Neurology (G.V.), Leeds Teaching Hospitals NHS Trust, UK; Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Italy; and Neurogenetics Unit (E.M.V.), IRCCS Fondazione Santa Lucia, Rome, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362187PMC
April 2017

Clinical and genetic factors predicting Dravet syndrome in infants with mutations.

Neurology 2017 Mar 15;88(11):1037-1044. Epub 2017 Feb 15.

From the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000003716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384833PMC
March 2017

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Mol Diagn Ther 2017 08;21(4):357-373

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.

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http://dx.doi.org/10.1007/s40291-017-0257-0DOI Listing
August 2017

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Hum Mutat 2017 02 9;38(2):216-225. Epub 2016 Dec 9.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/humu.23149DOI Listing
February 2017

Genetic Basis of Brain Malformations.

Mol Syndromol 2016 Sep 27;7(4):220-233. Epub 2016 Aug 27.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1159/000448639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073505PMC
September 2016

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

Neurology 2016 Mar 4;86(13):1250-9. Epub 2016 Mar 4.

From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002526DOI Listing
March 2016

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

J Med Genet 2015 Jun 9;52(6):405-12. Epub 2015 Mar 9.

Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2014-102959DOI Listing
June 2015

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

Epilepsia 2014 Nov 29;55(11):1748-53. Epub 2014 Sep 29.

Pediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/epi.12803DOI Listing
November 2014

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Am J Med Genet A 2014 Dec 24;164A(12):3142-7. Epub 2014 Sep 24.

Neurosurgery Unit, Istituto Giannina Gaslini, 16147 Genova, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36742DOI Listing
December 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014

Co-occurring malformations of cortical development and SCN1A gene mutations.

Epilepsia 2014 Jul 5;55(7):1009-19. Epub 2014 Jun 5.

Pediatric Neurology Unit and Laboratories, Children's Hospital Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/epi.12658DOI Listing
July 2014

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

Epilepsia 2012 Dec 21;53(12):2067-78. Epub 2012 Sep 21.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2012.03656.xDOI Listing
December 2012

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Eur J Hum Genet 2012 Sep 15;20(9):995-8. Epub 2012 Feb 15.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421113PMC
September 2012

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Am J Med Genet A 2011 May 11;155A(5):1140-6. Epub 2011 Apr 11.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33880DOI Listing
May 2011

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Epilepsia 2010 Apr 22;51(4):647-54. Epub 2009 Sep 22.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence, Viale Pieraccini 24, Florence, Italy.

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http://doi.wiley.com/10.1111/j.1528-1167.2009.02308.x
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http://dx.doi.org/10.1111/j.1528-1167.2009.02308.xDOI Listing
April 2010

Neuronal migration disorders.

Neurobiol Dis 2010 May 23;38(2):154-66. Epub 2009 Feb 23.

Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer, University of Florence, Florence, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S096999610900036
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http://dx.doi.org/10.1016/j.nbd.2009.02.008DOI Listing
May 2010

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

Epilepsia 2009 Jun 6;50(6):1344-53. Epub 2008 Oct 6.

Pediatric Neurology and Neurogenetics Unit, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01787.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271835PMC
June 2009

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

Neurogenetics 2004 Sep 28;5(3):191-6. Epub 2004 Jul 28.

IRCCS Stella Maris Foundation, Scientific Institute for Child and Adolescence Neurology and Psychiatry, Pisa, Italy.

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http://dx.doi.org/10.1007/s10048-004-0187-yDOI Listing
September 2004

Subcortical band heterotopia with simplified gyral pattern and syndactyly.

Am J Med Genet A 2003 Jun;119A(2):207-10

Division of Child Neurology and Psychiatry, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20111DOI Listing
June 2003