Alessandra Terracciano

Alessandra Terracciano

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Alessandra Terracciano

Alessandra Terracciano

Publications by authors named "Alessandra Terracciano"

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26Publications

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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

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.

Epilepsy Res 2016 09 16;125:32-6. Epub 2016 Jun 16.

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

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http://dx.doi.org/10.1016/j.eplepsyres.2016.05.015DOI Listing
September 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

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

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

Pediatr Neurol 2014 May 11;50(5):530-5. Epub 2014 Jan 11.

Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.022DOI Listing
May 2014

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

Eur J Paediatr Neurol 2013 May 19;17(3):254-8. Epub 2012 Nov 19.

Unit of Neurology, Dept. of Pediatrics, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1016/j.ejpn.2012.10.010DOI Listing
May 2013

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

Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency.

Hepatol Res 2012 Mar;42(3):327-31

Units of Pathology Molecular Medicine and Neurosciences Hepatic Surgery, Children's Hospital Bambino Gesù, Rome Unit of Pathology, Molinette Hospital, Turin IRCCS Fondazione Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1111/j.1872-034X.2011.00925.xDOI Listing
March 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

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.

Neurogenetics 2009 Apr 20;10(2):151-5. Epub 2008 Nov 20.

Molecular Medicine and Neurology, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio, 4 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-008-0159-8DOI Listing
April 2009

Fragile X syndrome.

Am J Med Genet C Semin Med Genet 2005 Aug;137C(1):32-7

Institute of Medical Genetics of Catholic University, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.c.30062
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http://dx.doi.org/10.1002/ajmg.c.30062DOI Listing
August 2005

Molecular dissection of the events leading to inactivation of the FMR1 gene.

Hum Mol Genet 2005 Jan 24;14(2):267-77. Epub 2004 Nov 24.

Istituto di Genetica medica, Università Cattolica, Rome, Italy.

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http://dx.doi.org/10.1093/hmg/ddi024DOI Listing
January 2005