Raffaella Cusmai

Raffaella Cusmai

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Raffaella Cusmai

Raffaella Cusmai

Publications by authors named "Raffaella Cusmai"

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ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Brain Dev 2018 May 1;40(5):433-438. Epub 2018 Feb 1.

Dept. of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.01.002DOI Listing
May 2018

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

Epilepsia 2017 06 4;58(6):e91-e95. Epub 2017 May 4.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/epi.13772DOI Listing
June 2017

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Eur J Paediatr Neurol 2017 May 30;21(3):450-456. Epub 2016 Nov 30.

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.11.005DOI Listing
May 2017

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Dev Med Child Neurol 2016 10 13;58(10):1085-91. Epub 2016 May 13.

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

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http://dx.doi.org/10.1111/dmcn.13141DOI Listing
October 2016

White matter disruption is associated with persistent seizures in tuberous sclerosis complex.

Epilepsy Behav 2016 07 11;60:63-67. Epub 2016 May 11.

Neuroradiology Unit, Imaging Department, "Bambino Gesù" Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2016.04.026DOI Listing
July 2016

PCDH19-related epilepsy in two mosaic male patients.

Epilepsia 2016 Mar 14;57(3):e51-5. Epub 2016 Jan 14.

Department of Neurosciences, Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1111/epi.13295DOI Listing
March 2016

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Orphanet J Rare Dis 2015 Sep 24;10:120. Epub 2015 Sep 24.

Metabolic Unit, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1186/s13023-015-0342-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581011PMC
September 2015

Cognitive development in females with PCDH19 gene-related epilepsy.

Epilepsy Behav 2015 Jan 11;42:36-40. Epub 2014 Dec 11.

Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2014.10.019DOI Listing
January 2015

Current role of rufinamide in the treatment of childhood epilepsy: literature review and treatment guidelines.

Eur J Paediatr Neurol 2014 Nov 28;18(6):685-90. Epub 2014 May 28.

Department of Systems Medicine, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.05.008DOI Listing
November 2014

Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders.

Epilepsy Res 2014 Mar 30;108(3):542-6. Epub 2014 Jan 30.

Child and Adolescent Neuropsychiatry, Faculty of Medicine and Surgery, University of Salerno, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2014.01.013DOI Listing
March 2014

PRRT2 is mutated in familial and non-familial benign infantile seizures.

Eur J Paediatr Neurol 2013 Jan 17;17(1):77-81. Epub 2012 Aug 17.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, P.zza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2012.07.006DOI Listing
January 2013

Clinical Reasoning: a girl presenting with stiffness episodes during sleep, cafe-au-lait spots, and flecked retina.

Neurology 2013 Jan;80(5):e42-6

Pediatric Neurology Unit, Neuroscience Department, Tor Vergata University Hospital, Rome.

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http://dx.doi.org/10.1212/WNL.0b013e31827f1346DOI Listing
January 2013

Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study.

Epilepsy Res 2012 Nov 5;102(1-2):94-9. Epub 2012 Jun 5.

Pediatric Neurology Unit, Neuroscience Department, "Tor Vergata" University Hospital of Rome, Viale Oxford 81, 00133 Rome, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.05.004DOI Listing
November 2012

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

Eur J Paediatr Neurol 2012 Sep 18;16(5):509-13. Epub 2012 Jan 18.

Neurology Unit, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.12.015DOI Listing
September 2012

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Epilepsia 2011 Jul 11;52(7):1251-7. Epub 2011 Apr 11.

Neurology Unit, Department of Neuroscience, Bambino Gesu' Children's Hospital-IRCCS, Piazza S. Onofrio 4, Rome, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03063.xDOI Listing
July 2011

The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: an Italian consensus.

Epilepsia 2011 Apr;52 Suppl 2:83-9

Department of Child Neurology and Psychiatry, Fondazione IRCCS Istituto Neurologico C Mondino, Pavia, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03010.xDOI Listing
April 2011

Convulsions associated with gastroenteritis in the spectrum of benign focal epilepsies in infancy: 30 cases including four cases with ictal EEG recording.

Epileptic Disord 2010 Dec 23;12(4):255-61. Epub 2010 Nov 23.

Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2010.0340DOI Listing
December 2010

Occurrence of a prolonged nonepileptic motor status after a febrile seizure.

Epilepsia 2006 Jun;47(6):1079-81

Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00578.xDOI Listing
June 2006