Publications by authors named "Giulia Barcia"

46Publications

Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy.

Epilepsia Open 2020 Sep 1;5(3):496-500. Epub 2020 Jul 1.

Department of Pediatric Neurology Reference Centre for Rare Epilepsies Hôpital Necker-Enfants Malades Paris France.

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http://dx.doi.org/10.1002/epi4.12411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469777PMC
September 2020

Improving post-natal detection of mitochondrial DNA mutations.

Expert Rev Mol Diagn 2020 Sep 20:1-6. Epub 2020 Sep 20.

Université de Paris et Service de Génétique Moléculaire, Reference Center for Mitochondrial Diseases (CARAMMEL), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris , Paris, France.

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http://dx.doi.org/10.1080/14737159.2020.1820326DOI Listing
September 2020

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

Eur J Paediatr Neurol 2020 Jun 28. Epub 2020 Jun 28.

Unité de neurologie de l'enfant et de l'adolescent. Centre Hospitalo-Universitaire de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie-Raba-Léon, 33 076, Bordeaux cedex, France.

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http://dx.doi.org/10.1016/j.ejpn.2020.06.002DOI Listing
June 2020

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.

Neuromuscul Disord 2020 Jul 10;30(7):593-598. Epub 2020 Jun 10.

Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker-Enfants Malades, Paris, France; VIFASOM, Université de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2020.06.002DOI Listing
July 2020

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurol Genet 2019 Dec 25;5(6):e363. Epub 2019 Oct 25.

Service de Génétique (G.B., J.-P.B., S.G.-L.), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1163 (G.B., N.B-.B., R.N.), Université Paris Descartes, PRES Sorbonne Paris Cité, Paris, France; Service de Neurologie Pédiatrique (N.C., N.B-.B., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Centre de Référence des Epilepsies Rares (N.C., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1129 (N.N., A.K., R.N.), Paris, France; Service de Neurophysiologie Clinique et Pédiatrie (M.K.), INSERM U1099, Hôpital Universitaire de Rennes, Université de Rennes, France; Service de Neurophysiologie Clinique (M.E., A.K.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Génétique Clinique (V.C.), Hôpital Femme Mère Enfant, Metz-Thionville, France; Pediatric Neurology Research Group (A.M.), Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Service de Génétique Clinique (L.L.), Hôpital d'Enfants, CHU de Nancy, Vandoeuvre-Lès-Nancy, France; Service de Pédiatrie (F.D.), CHU de Grenoble, France; Service de Neurologie Pédiatrique (D.D., T.B.V.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Neurologie Pédiatrique (N.V., M.M.), APHM, Hôpital d'Enfants de La Timone, Marseille, France; Service de Neurologie Pédiatrique (M-.A.B., M.M.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Génétique (C.N., M.M.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Radiologie Pédiatrique (N.B., M.M.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Aix-Marseille (M.M.), INSERM, MMG, UMR-S 1251, Faculté de Médecine, Marseille, France; and Unité de Neurologie Pédiatrique (S.A.), Hôpital Rober Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878841PMC
December 2019

[Twenty years of on-site clinical genetics consultations for people with ASD].

Med Sci (Paris) 2019 Nov 17;35(11):843-851. Epub 2019 Dec 17.

Fédération de Génétique Médicale et Institute Imagine, UMR Inserm 1163, Université Paris-Descartes, Hôpital Necker Enfants-Malades et Fondation Elan Retrouvé, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/2019170DOI Listing
November 2019

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Mol Genet Metab Rep 2019 Dec 23;21:100522. Epub 2019 Oct 23.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819737PMC
December 2019

Expanding the clinical spectrum of mutations.

Mol Genet Metab Rep 2019 Dec 13;21:100501. Epub 2019 Aug 13.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706677PMC
December 2019

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Clin Genet 2019 09 6;96(3):254-260. Epub 2019 Jun 6.

Reference Centre for Rare Epilepsies, Pediatric Neurology, Necker Enfants-Malades Hospital, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13581
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http://dx.doi.org/10.1111/cge.13581DOI Listing
September 2019

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia Open 2019 Mar 20;4(1):40-53. Epub 2018 Dec 20.

Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France.

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http://doi.wiley.com/10.1002/epi4.12281
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http://dx.doi.org/10.1002/epi4.12281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398110PMC
March 2019

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.

Prenat Diagn 2019 04 1;39(5):388-393. Epub 2019 Apr 1.

Service de Génétique, CHRU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.

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http://dx.doi.org/10.1002/pd.5439DOI Listing
April 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

Am J Med Genet A 2018 09 4;176(9):1981-1984. Epub 2018 Sep 4.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40375
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http://dx.doi.org/10.1002/ajmg.a.40375DOI Listing
September 2018

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Eur J Paediatr Neurol 2018 Sep 22;22(5):854-861. Epub 2018 May 22.

Reference Center for Neuromuscular Diseases, FILNEMUS, Paris, France; Department of Pediatric Neurology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2018.05.005DOI Listing
September 2018

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

J Autism Dev Disord 2018 08;48(8):2886-2889

Département de génétique médicale, Institut Imagine, Hôpital Necker-Enfants Malades, INSERM UMR 1163, Université Paris Descartes-Sorbonne, Paris, France.

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http://dx.doi.org/10.1007/s10803-018-3552-7DOI Listing
August 2018

Pitfalls in molecular diagnosis of Friedreich ataxia.

Eur J Med Genet 2018 Aug 9;61(8):455-458. Epub 2018 Mar 9.

Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France; Service de Génétique, Groupe hospitalier Necker Enfants Malades, Assistance Publique -Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.03.004DOI Listing
August 2018

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

Human slack potassium channel mutations increase positive cooperativity between individual channels.

Cell Rep 2014 Dec 4;9(5):1661-1672. Epub 2014 Dec 4.

Department of Pharmacology, Yale University, New Haven, CT 06520, USA; Department of Cellular and Molecular Physiology, Yale University, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294418PMC
December 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.

Orphanet J Rare Dis 2013 Nov 13;8:176. Epub 2013 Nov 13.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker Enfants Malades APHP, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225757PMC
November 2013

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Eur J Med Genet 2014 Jan 1;57(1):15-20. Epub 2013 Nov 1.

Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.006DOI Listing
January 2014

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children.

Dev Med Child Neurol 2013 Dec 8;55(12):1150-8. Epub 2013 Aug 8.

Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hôpital Necker-Enfants malades, APHP, Paris, France; Inserm, U663, Paris, France; University Paris Descartes, CEA, Gif sur Yvette, France.

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http://dx.doi.org/10.1111/dmcn.12233DOI Listing
December 2013

Status epilepticus as a main manifestation of posterior reversible encephalopathy syndrome after pediatric hematopoietic stem cell transplantation.

Pediatr Blood Cancer 2012 May 11;58(5):785-90. Epub 2011 Oct 11.

Child Neurology and Psychiatry Unit, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy.

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http://dx.doi.org/10.1002/pbc.23344DOI Listing
May 2012

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders.

Brain Dev 2010 Oct 5;32(9):783-9. Epub 2010 Aug 5.

Autism Centre, Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy.

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http://dx.doi.org/10.1016/j.braindev.2010.07.003DOI Listing
October 2010

Autism and coeliac disease.

J Autism Dev Disord 2008 Feb 6;38(2):407-8. Epub 2007 Nov 6.

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http://dx.doi.org/10.1007/s10803-007-0480-3DOI Listing
February 2008