Works by Barcia, Giulia

Results: 40

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915

By:

Bar, Claire;
Barcia, Giulia;
Jennesson, Mélanie;
Le Guyader, Gwenaël;
Schneider, Amy;
Mignot, Cyril;
Lesca, Gaetan;
Breuillard, Delphine;
Montomoli, Martino;
Keren, Boris;
Doummar, Diane;
Billette de Villemeur, Thierry;
Afenjar, Alexandra;
Marey, Isabelle;
Gerard, Marion;
Isnard, Hervé;
Poisson, Alice;
Dupont, Sophie;
Berquin, Patrick;
Meyer, Pierre

Publication type:

Article

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 397, doi. 10.1002/humu.23937

By:

Barcia, Giulia;
Rio, Marlène;
Assouline, Zahra;
Zangarelli, Coralie;
Gueguen, Naig;
Dumas, Valerie D.;
Marcorelles, Pascale;
Schiff, Manuel;
Slama, Abdelhamid;
Barth, Magalie;
Hully, Marie;
Lonlay, Pascale;
Munnich, Arnold;
Desguerre, Isabelle;
Bonnefont, Jean‐Paul;
Steffann, Julie;
Procaccio, Vincent;
Boddaert, Nathalie;
Rötig, Agnès;
Metodiev, Metodi D.

Publication type:

Article

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2047, doi. 10.1002/humu.23657

By:

Ruzzenente, Benedetta;
Assouline, Zahra;
Barcia, Giulia;
Rio, Marlène;
Boddaert, Nathalie;
Munnich, Arnold;
Rötig, Agnès;
Metodiev, Metodi D.

Publication type:

Article

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1478, doi. 10.1002/acn3.52062

By:

Rouzier, Cécile;
Pion, Emmanuelle;
Chaussenot, Annabelle;
Bris, Céline;
Ait‐El‐Mkadem Saadi, Samira;
Desquiret‐Dumas, Valérie;
Gueguen, Naïg;
Fragaki, Konstantina;
Amati‐Bonneau, Patrizia;
Barcia, Giulia;
Gaignard, Pauline;
Steffann, Julie;
Pennisi, Alessandra;
Bonnefont, Jean‐Paul;
Lebigot, Elise;
Bannwarth, Sylvie;
Francou, Bruno;
Rucheton, Benoit;
Sternberg, Damien;
Martin‐Negrier, Marie‐Laure

Publication type:

Article

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470

By:

Hikmat, Omar;
Isohanni, Pirjo;
Keshavan, Nandaki;
Ferla, Matteo P.;
Fassone, Elisa;
Abbott, Mary‐Alice;
Bellusci, Marcello;
Darin, Niklas;
Dimmock, David;
Ghezzi, Daniele;
Houlden, Henry;
Invernizzi, Federica;
Kamarus Jaman, Nazreen B.;
Kurian, Manju A.;
Morava, Eva;
Naess, Karin;
Ortigoza‐Escobar, Juan Darío;
Parikh, Sumit;
Pennisi, Alessandra;
Barcia, Giulia

Publication type:

Article

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1429, doi. 10.1002/acn3.51062

By:

Helbig, Ingo;
Barcia, Giulia;
Pendziwiat, Manuela;
Ganesan, Shiva;
Mueller, Stefanie H.;
Helbig, Katherine L.;
Vaidiswaran, Priya;
Xian, Julie;
Galer, Peter D.;
Afawi, Zaid;
Specchio, Nicola;
Kluger, Gerhard;
Kuhlenbäumer, Gregor;
Appenzeller, Silke;
Wittig, Michael;
Kramer, Uri;
Baalen, Andreas;
Nabbout, Rima

Publication type:

Article

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Published in:

Life (2075-1729), 2023, v. 13, n. 2, p. 445, doi. 10.3390/life13020445

By:

Cafournet, Cérane;
Zanin, Sofia;
Guimier, Anne;
Hully, Marie;
Assouline, Zahra;
Barcia, Giulia;
de Lonlay, Pascale;
Steffann, Julie;
Munnich, Arnold;
Bonnefont, Jean-Paul;
Rötig, Agnès;
Ruzzenente, Benedetta;
Metodiev, Metodi D.

Publication type:

Article

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Published in:

Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441

By:

Barcia, Giulia;
Fleming, Matthew R;
Deligniere, Aline;
Gazula, Valeswara-Rao;
Brown, Maile R;
Langouet, Maeva;
Chen, Haijun;
Kronengold, Jack;
Abhyankar, Avinash;
Cilio, Roberta;
Nitschke, Patrick;
Kaminska, Anna;
Boddaert, Nathalie;
Casanova, Jean-Laurent;
Desguerre, Isabelle;
Munnich, Arnold;
Dulac, Olivier;
Kaczmarek, Leonard K;
Colleaux, Laurence;
Nabbout, Rima

Publication type:

Article

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7085599

By:

Cordovado, Amélie;
Hérenger, Yvan;
Cormier, Coline;
López-Martín, Estrella;
Stamberger, Hannah;
Faivre, Laurence;
Denommé-Pichon, Anne-Sophie;
Vitobello, Antonio;
Abdallah, Hamza Hadj;
Barcia, Giulia;
Courtin, Thomas;
Martínez-Delgado, Beatriz;
Bermejo-Sánchez, Eva;
Barrero, María J.;
Gasser, Brooklynn;
Bezieau, Stéphane;
Küry, Sébastien;
Weckhuysen, Sarah;
Laumonnier, Frédéric;
Toutain, Annick

Publication type:

Article

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

Published in:

Pediatric Blood & Cancer, 2012, v. 58, n. 5, p. 785, doi. 10.1002/pbc.23344

By:

Cordelli, Duccio Maria;
Masetti, Riccardo;
Bernardi, Bruno;
Barcia, Giulia;
Gentile, Valentina;
Biagi, Carlotta;
Prete, Arcangelo;
Pession, Andrea;
Franzoni, Emilio

Publication type:

Article

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 6, p. 705, doi. 10.1111/dmcn.14814

By:

Loiselet, Klervie;
Ruzzenente, Benedetta;
Roux, Charles‐Joris;
Barcia, Giulia;
Pennisi, Alessandra;
Desguerre, Isabelle;
Rötig, Agnès;
Munnich, Arnold;
Boddaert, Nathalie;
Levy, Raphaël;
Dangouloff‐Ros, Volodia;
Grévent, David;
De Lonlay, Pascale

Publication type:

Article

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

Published in:

Developmental Medicine & Child Neurology, 2013, v. 55, n. 12, p. 1150, doi. 10.1111/dmcn.12233

By:

Barcia, Giulia;
Desguerre, Isabelle;
Carmona, Orietta;
Barnerias, Christine;
Chemaly, Nicole;
Gitiaux, Cyril;
Brunelle, Francis;
Dulac, Olivier;
Boddaert, Nathalie;
Nabbout, Rima

Publication type:

Article

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Published in:

Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01882-0

By:

Bui, Mai Thao;
Fernández-Eulate, Gorka;
Evangelista, Teresinha;
Lacène, Emmanuelle;
Brochier, Guy;
Labasse, Clémence;
Madelaine, Angéline;
Chanut, Anaïs;
Beuvin, Maud;
Borsato-Levy, Favienne;
Biancalana, Valérie;
Barcia, Giulia;
De Lonlay, Pascale;
Laporte, Jocelyn;
Böhm, Johann;
Romero, Norma Beatriz

Publication type:

Article

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3200

By:

Martin, Hilary C.;
Kim, Grace E.;
Pagnamenta, Alistair T.;
Murakami, Yoshiko;
Carvill, Gemma L.;
Meyer, Esther;
Copley, Richard R.;
Rimmer, Andrew;
Barcia, Giulia;
Fleming, Matthew R.;
Kronengold, Jack;
Brown, Maile R.;
Hudspith, Karl A.;
Broxholme, John;
Kanapin, Alexander;
Cazier, Jean-Baptiste;
Kinoshita, Taroh;
Nabbout, Rima;
Bentley, David;
McVean, Gil

Publication type:

Article

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

Published in:

Clinical Genetics, 2019, v. 96, n. 3, p. 254, doi. 10.1111/cge.13581

By:

Routier, Laura;
Verny, Florine;
Barcia, Giulia;
Chemaly, Nicole;
Desguerre, Isabelle;
Colleaux, Laurence;
Nabbout, Rima

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1981, doi. 10.1002/ajmg.a.40375

By:

Nguyen, Huy Hoang;
Pham, Van Anh;
Barcia, Giulia;
Malan, Valérie;
Nguyen, Kiem Lien Thi;
Ngo, Diem Ngoc;
Nguyen, Thu Hien;
Landrieu, Pierre;
Colleaux, Laurence;
Nong, Van Hai;
Nguyen, Lam Son

Publication type:

Article

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.

Published in:

2022

By:

Guerrini, Renzo;
Mei, Davide;
Kerti-Szigeti, Katalin;
Pepe, Sara;
Koenig, Mary Kay;
Allmen, Gretchen Von;
Cho, Megan T;
McDonald, Kimberly;
Baker, Janice;
Bhambhani, Vikas;
Powis, Zöe;
Rodan, Lance;
Nabbout, Rima;
Barcia, Giulia;
Rosenfeld, Jill A;
Bacino, Carlos A;
Mignot, Cyril;
Power, Lillian H;
Harris, Catharine J;
Marjanovic, Dragan

Publication type:

journal article

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Published in:

2019

By:

Kuchenbuch, Mathieu;
Barcia, Giulia;
Chemaly, Nicole;
Carme, Emilie;
Roubertie, Agathe;
Gibaud, Marc;
Bogaert, Patrick Van;
Martin, Anne de Saint;
Hirsch, Edouard;
Dubois, Fanny;
Sarret, Catherine;
Tich, Sylvie Nguyen The;
Laroche, Cecile;
Portes, Vincent des;
Villemeur, Thierry Billette de;
Barthez, Marie-Anne;
Auvin, Stéphane;
Bahi-Buisson, Nadia;
Desguerre, Isabelle;
Kaminska, Anna

Publication type:

journal article

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Published in:

2018

By:

Chemin, Jean;
Siquier-Pernet, Karine;
Nicouleau, Michaël;
Barcia, Giulia;
Ahmad, Ali;
Medina-Cano, Daniel;
Hanein, Sylvain;
Altin, Nami;
Hubert, Laurence;
Bole-Feysot, Christine;
Fourage, Cécile;
Nitschké, Patrick;
Thevenon, Julien;
Rio, Marlène;
Blanc, Pierre;
vidal, Céline;
Bahi-Buisson, Nadia;
Desguerre, Isabelle;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

journal article

Vingt ans de consultations de génétique clinique sur site dans les hôpitaux de jour pour les personnes atteintes de troubles du spectre autistique de la région parisienne.

Published in:

Médecine Sciences, 2019, v. 35, n. 11, p. 843, doi. 10.1051/medsci/2019170

By:

Munnich, Arnold;
Demily, Caroline;
Frugère, Lisa;
Duwime, Charlyne;
Malan, Valérie;
Barcia, Giulia;
Vidal, Céline;
Throo, Émeline;
Besmond, Claude;
Hubert, Laurence;
Roland-Manuel, Gilles;
Malen, Jean-Pierre;
Ferreri, Mélanie;
Hanein, Sylvain;
Boddaert, Nathalie;
Assouline, Moise

Publication type:

Article

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Published in:

2016

By:

Megahed, Hisham;
Nicouleau, Michaël;
Barcia, Giulia;
Medina-Cano, Daniel;
Siquier-Pernet, Karine;
Bole-Feysot, Christine;
Parisot, Mélanie;
Masson, Cécile;
Nitschké, Patrick;
Rio, Marlène;
Bahi-Buisson, Nadia;
Desguerre, Isabelle;
Munnich, Arnold;
Boddaert, Nathalie;
Colleaux, Laurence;
Cantagrel, Vincent

Publication type:

journal article

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

Published in:

2013

By:

Nabbout, Rima;
Chemaly, Nicole;
Chipaux, Mathilde;
Barcia, Giulia;
Bouis, Charles;
Dubouch, Celia;
Leunen, Dorothee;
Jambaqué, Isabelle;
Dulac, Olivier;
Dellatolas, Georges;
Chiron, Catherine

Publication type:

journal article

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363

By:

Ruault, Valentin;
Burger, Pauline;
Gradels‐Hauguel, Johanna;
Ruiz, Nathalie;
Jamra, Rami Abou;
Afenjar, Alexandra;
Alembik, Yves;
Alessandri, Jean‐Luc;
Arpin, Stéphanie;
Barcia, Giulia;
Bendová, Šárka;
Bruel, Ange‐Line;
Charles, Perrine;
Chatron, Nicolas;
Chopra, Maya;
Conrad, Solène;
Daire, Valérie Cormier;
Cospain, Auriane;
Coubes, Christine;
Coursimault, Juliette

Publication type:

Article

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.

Published in:

Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19919-y

By:

Ucuncu, Ekin;
Rajamani, Karthyayani;
Wilson, Miranda S. C.;
Medina-Cano, Daniel;
Altin, Nami;
David, Pierre;
Barcia, Giulia;
Lefort, Nathalie;
Banal, Céline;
Vasilache-Dangles, Marie-Thérèse;
Pitelet, Gaële;
Lorino, Elsa;
Rabasse, Nathalie;
Bieth, Eric;
Zaki, Maha S.;
Topcu, Meral;
Sonmez, Fatma Mujgan;
Musaev, Damir;
Stanley, Valentina;
Bole-Feysot, Christine

Publication type:

Article

Clinical and radiological description of 120 pediatric stroke‐like episodes.

Published in:

European Journal of Neurology, 2023, v. 30, n. 7, p. 2051, doi. 10.1111/ene.15821

By:

Durrleman, Chloe;
Grevent, David;
Aubart, Melodie;
Kossorotoff, Manoelle;
Roux, Charles‐Joris;
Kaminska, Anna;
Rio, Marlene;
Barcia, Giulia;
Boddaert, Nathalie;
Munnich, Arnold;
Nabbout, Rima;
Desguerre, Isabelle

Publication type:

Article

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Published in:

2019

By:

Hureaux, Marguerite;
Ben Miled, Selima;
Chatron, Nicolas;
Coussement, Aurelie;
Bessières, Bettina;
Egloff, Matthieu;
Mechler, Charlotte;
Stirnemann, Julien;
Tsatsaris, Vassilis;
Barcia, Giulia;
Turleau, Catherine;
Ville, Yves;
Encha‐Razavi, Ferechte;
Attie‐Bitach, Tania;
Malan, Valérie;
Encha-Razavi, Ferechte;
Attie-Bitach, Tania

Publication type:

journal article

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

Published in:

2019

By:

Bacrot, Séverine;
Monnot, Sophie;
Haddad, Georges;
Barcia, Giulia;
Rachid, Myriam;
Boisson, Marie;
Pasquier, Nathalie;
Rondeau, Sophie;
Munnich, Arnold;
Steffann, Julie;
Bonnefont, Jean‐Paul;
Raynaud, Martine;
Bonnefont, Jean-Paul

Publication type:

journal article

GATAD2B‐related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal.

Published in:

Epilepsia Open, 2025, v. 10, n. 2, p. 620, doi. 10.1002/epi4.13133

By:

Scorrano, Giovanna;
Barcia, Giulia;
Champ, Jérôme;
Courtin, Thomas;
Boddaert, Nathalie;
Kaminska, Anna;
Chemaly, Nicole;
Nabbout, Rima

Publication type:

Article

Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.

Published in:

Epilepsia Open, 2024, v. 9, n. 4, p. 1589, doi. 10.1002/epi4.12964

By:

Garcia‐Uzquiano, Rocio;
Barcia, Giulia;
Losito, Emma;
Chemaly, Nicole;
Kaminska, Anna;
Desguerre, Isabelle;
Blauwblomme, Thomas;
Boddaert, Nathalie;
Nabbout, Rima

Publication type:

Article

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

Published in:

Epilepsia Open, 2020, v. 5, n. 3, p. 496, doi. 10.1002/epi4.12411

By:

Kuchenbuch, Mathieu;
D'Onofrio, Gianluca;
Chemaly, Nicole;
Barcia, Giulia;
Teng, Théo;
Nabbout, Rima

Publication type:

Article

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

Published in:

Epilepsia Open, 2019, v. 4, n. 1, p. 40, doi. 10.1002/epi4.12281

By:

Ouss, Lisa;
Leunen, Dorothee;
Laschet, Jacques;
Chemaly, Nicole;
Barcia, Giulia;
Losito, Emma M.;
Aouidad, Aveline;
Barrault, Zoe;
Desguerre, Isabelle;
Breuillard, Delphine;
Nabbout, Rima

Publication type:

Article

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

Published in:

Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0284-2

By:

Munnich, Arnold;
Demily, Caroline;
Frugère, Lisa;
Duwime, Charlyne;
Malan, Valérie;
Barcia, Giulia;
Vidal, Céline;
Throo, Emeline;
Besmond, Claude;
Hubert, Laurence;
Roland-Manuel, Gilles;
Malen, Jean-Pierre;
Ferreri, Mélanie;
Hanein, Sylvain;
Thalabard, Jean-Christophe;
Boddaert, Nathalie;
Assouline, Moïse

Publication type:

Article

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Published in:

International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319

By:

Hamdan, Fadi F.;
Perrault, Isabelle;
Rio, Marlène;
Capo-Chichi, José-Mario;
Boddaert, Nathalie;
Décarie, Jean-Claude;
Maranda, Bruno;
Nabbout, Rima;
Sylvain, Michel;
Lortie, Anne;
Roux, Philippe P.;
Rossignol, Elsa;
Gérard, Xavier;
Barcia, Giulia;
Berquin, Patrick;
Munnich, Arnold;
Rouleau, Guy A.;
Kaplan, Josseline;
Rozet, Jean-Michel;
Michaud, Jacques L.

Publication type:

Article

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

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 8, p. 2886, doi. 10.1007/s10803-018-3552-7

By:

Demily, Caroline;
Poisson, Alice;
Till, Marianne;
Lesca, Gaétan;
Chatron, Nicolas;
Sanlaville, Damien;
Barcia, Giulia;
Munnich, Arnold

Publication type:

Article

Autism and Coeliac Disease.

Published in:

2008

By:

Barcia, Giulia;
Posar, Annio;
Santucci, Margherita;
Parmeggiani, Antonia

Publication type:

Letter

Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 549, doi. 10.1093/brain/awae262

By:

Bakouh, Naziha;
Castaño-Martín, Reyes;
Metais, Alice;
Dan, Emanuela Loredana;
Balducci, Estelle;
Chhuon, Cerina;
Lepicka, Joanna;
Barcia, Giulia;
Losito, Emma;
Lourdel, Stéphane;
Planelles, Gabrielle;
Muresan, Raul C;
Moca, Vasile Vlad;
Kaminska, Anna;
Bourgeois, Marie;
Chemaly, Nicole;
Rguez, Yasmine;
Auvin, Stéphane;
Huberfeld, Gilles;
Varlet, Pascale

Publication type:

Article

Improving post-natal detection of mitochondrial DNA mutations.

Published in:

Expert Review of Molecular Diagnostics, 2020, v. 20, n. 10, p. 1003, doi. 10.1080/14737159.2020.1820326

By:

Barcia, Giulia;
Assouline, Zahra;
Magen, Maryse;
Pennisi, Alessandra;
Rötig, Agnès;
Munnich, Arnold;
Bonnefont, Jean-Paul;
Steffann, Julie

Publication type:

Article

Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 1, p. 134, doi. 10.1111/epi.18178

By:

Nabbout, Rima;
Molimard, Agathe;
Scorrano, Giovanna;
Aubart, Melodie;
Breuillard, Delphine;
Delaune, Morgane;
Barcia, Giulia;
Chemaly, Nicole;
Barthez, Marie‐Anne;
Desguerre, Isabelle

Publication type:

Article

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.

Published in:

Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679

By:

Bar, Claire;
Kuchenbuch, Mathieu;
Barcia, Giulia;
Schneider, Amy;
Jennesson, Mélanie;
Le Guyader, Gwenaël;
Lesca, Gaetan;
Mignot, Cyril;
Montomoli, Martino;
Parrini, Elena;
Isnard, Hervé;
Rolland, Anne;
Keren, Boris;
Afenjar, Alexandra;
Dorison, Nathalie;
Sadleir, Lynette G.;
Breuillard, Delphine;
Levy, Raphael;
Rio, Marlène;
Dupont, Sophie

Publication type:

Article

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.

Published in:

Epilepsia (Series 4), 2019, v. 60, n. 1, p. 20, doi. 10.1111/epi.14605

By:

Kuchenbuch, Mathieu;
Milh, Matthieu;
Villeneuve, Nathalie;
Chemaly, Nicole;
Nabbout, Rima;
Kaminska, Anna;
Barcia, Giulia;
Benquet, Pascal;
Modolo, Julien;
Wendling, Fabrice;
Roubertie, Agathe;
Carme, Emilie;
Saint Martin, Anne;
Hirsch, Edouard;
Dubois, Fanny;
Laroche, Cécile;
Sauleau, Paul

Publication type:

Article