Maria Margherita Mancardi

Maria Margherita Mancardi

UNVERIFIED PROFILE

Are you Maria Margherita Mancardi?   Register this Author

Register author
Maria Margherita Mancardi

Maria Margherita Mancardi

Publications by authors named "Maria Margherita Mancardi"

Are you Maria Margherita Mancardi?   Register this Author

37Publications

999Reads

45Profile Views

Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.

Neuropediatrics 2019 10 18;50(5):327-331. Epub 2019 Jul 18.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1692141DOI Listing
October 2019

Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis.

Pediatr Neurol 2019 Oct 19. Epub 2019 Oct 19.

Unit of Child Neuropsichiatry, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genova, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2019.09.004DOI Listing
October 2019

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

Eur J Med Genet 2019 Sep 22;62(9):103555. Epub 2018 Oct 22.

Dept. of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183048
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.10.007DOI Listing
September 2019

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.

Seizure 2019 Aug 27;70:56-58. Epub 2019 Jun 27.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2019.06.029DOI Listing
August 2019

Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report.

Neurodiagn J 2017;57(2):139-146

a Child Neuropsychiatry Unit , Giannina Gaslini Pediatric Institute , Genoa , Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/21646821.2017.1309941DOI Listing
June 2019

Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome.

Brain Dev 2019 Jun 20;41(6):522-530. Epub 2019 Feb 20.

Unit of Child Neuropsychiatry, Dept of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Dept. of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2019.02.004DOI Listing
June 2019

PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol.

J Child Adolesc Psychopharmacol 2019 May 6;29(4):305-312. Epub 2019 Feb 6.

1 Child Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, Istituto Giannina Gaslini, University of Genoa, Genoa, Italy.

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/cap.2018.0087
Publisher Site
http://dx.doi.org/10.1089/cap.2018.0087DOI Listing
May 2019

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

Seizure 2019 Apr 7;67:57-60. Epub 2019 Mar 7.

Epilepsy Centre, Unit of Child Neuropsychiatry, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini Institute, Genoa, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2019.02.019DOI Listing
April 2019

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics 2018 06 9;49(3):217-221. Epub 2018 Apr 9.

Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0038-1639372DOI Listing
June 2018

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Cephalalgia 2017 Oct 19;37(12):1202-1206. Epub 2016 Sep 19.

1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0333102416668655DOI Listing
October 2017

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.

View Article

Download full-text PDF

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

Epileptic encephalopathy with continuous spike and wave during sleep associated to periventricular leukomalacia.

J Child Neurol 2014 Nov 28;29(11):1479-85. Epub 2013 Nov 28.

Epilepsy Center, Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073813508223DOI Listing
November 2014

Cranial nerve and cauda equina contrast enhancement in Cockayne syndrome.

Neurology 2014 Oct;83(17):1581

From Istituto G. Gaslini (R.B., M.M.M., M.E.C., G.M.), Genova; and Istituto di Genetica Molecolare del CNR (T.N.), Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000903DOI Listing
October 2014

Epilepsia partialis continua in type 1 diabetes: evolution into epileptic encephalopathy with continuous spike-waves during slow sleep.

Neurol Sci 2009 Dec 15;30(6):509-12. Epub 2009 Aug 15.

OU Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Largo G Gaslini 5, 16100 Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-009-0122-yDOI Listing
December 2009