Publications by authors named "Maria Margherita Mancardi"

44Publications

Is SARS-CoV-2 Infection a Risk for Potentiation of Epileptic Seizures in Children With Pre-existing Epilepsy?

Pediatr Neurol 2020 Dec 3;116:31. Epub 2020 Dec 3.

Unit of Child Neuropsychiatry, Clinical and Surgical Neurosciences Department, IRCCS Giannina Gaslini Institute, Genoa, Italy.

View Article and Find Full Text PDF
December 2020

Safety and pharmacokinetics of medical cannabis preparation in a monocentric series of young patients with drug resistant epilepsy.

Complement Ther Med 2020 Jun 28;51:102402. Epub 2020 Apr 28.

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

View Article and Find Full Text PDF
June 2020

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.

Neuropediatrics 2020 12 11;51(6):425-429. Epub 2020 May 11.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.

View Article and Find Full Text PDF
December 2020

Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern.

Brain Dev 2020 May 27;42(5):408-413. Epub 2020 Feb 27.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy. Electronic address:

View Article and Find Full Text PDF
May 2020

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

Pediatr Neurol 2020 02 19;103:61-64. 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 and Find Full Text PDF
February 2020

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 and Find Full Text PDF
October 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 and Find Full Text PDF
August 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 and Find Full Text PDF
April 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 and Find Full Text PDF
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 05 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 and Find Full Text PDF
May 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 and Find Full Text PDF
September 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 and Find Full Text PDF
June 2018

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 and Find Full Text PDF
October 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 and Find Full Text PDF
November 2014