Search - Université Paris Cité Access content directly

Filter your results

30 Results
authFullName_s : Giulia Barcia

Epilepsy of infancy with migrating focal seizures (EIMFS) due to KCNT1 mutations shows an identifiable temporal sequence and a poor outcome with pharmacoresistant epilepsy and high mortality with SUDEP

M. Kuchenbuch , Giulia Barcia , Nicole Chemaly , A. Kamińska-Pranke , Pascal Benquet et al.
European Journal of Neurology, 2020, 27, pp.288-288
Journal articles hal-02879958v1
Image document

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

Hisham Megahed , Michaël Nicouleau , Giulia Barcia , Daniel Medina-Cano , Karine Siquier-Pernet et al.
Orphanet Journal of Rare Diseases, 2015, 11 (1), pp.57. ⟨10.1186/s13023-016-0436-9⟩
Journal articles inserm-01322562v1
Image document

Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

Grace E Kim , Jack Kronengold , Giulia Barcia , Imran H Quraishi , Hilary C Martin et al.
Cell Reports, 2014, 9 (5), pp.1661-1672. ⟨10.1016/j.celrep.2014.11.015⟩
Journal articles hal-02044797v1

Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia et al.
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles hal-03244899v1

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

Jean Chemin , Karine Siquier-Pernet , Michael Nicouleau , Giulia Barcia , Ali Ahmad et al.
Brain - A Journal of Neurology , 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Journal articles hal-02017665v1
Image document

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

Ekin Ucuncu , Karthyayani Rajamani , Miranda Wilson , Daniel Medina-Cano , Nami Altin et al.
Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Journal articles hal-03151207v1
Image document

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

Claire Bar , Delphine Breuillard , Mathieu Kuchenbuch , Mélanie Jennesson , Gwenaël Le Guyader et al.
Epilepsy & Behavior, 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
Journal articles hal-03485808v1
Image document

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault , Anne-Marie Guerrot , Michelle Morrow , Catherine Schramm , Francisca Millan Zamora et al.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles hal-03820933v1

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

Arnold Munnich , Caroline Demily , Lisa Frugère , Charlyne Duwime , Valérie Malan et al.
Molecular Autism, 2019, 10 (1), pp.33. ⟨10.1186/s13229-019-0284-2⟩
Journal articles hal-04042113v1

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

Giulia Barcia , Matthew Fleming , Aline Deligniere , Valeswara-Rao Gazula , Maile Brown et al.
Nature Genetics, 2012, 44 (11), pp.1255-1259. ⟨10.1038/ng.2441⟩
Journal articles hal-02090149v1
Image document

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

Laura Routier , Florine Verny , Giulia Barcia , Nicole Chemaly , Isabelle Desguerre et al.
Clinical Genetics, 2019, 96 (3), pp.254-260. ⟨10.1111/cge.13581⟩
Journal articles hal-02997569v1
Image document

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Marie Hully , Tommaso Lo Barco , Anna Kaminska , Giulia Barcia , Claude Cances et al.
Genetics in Medicine, 2021, ⟨10.1038/s41436-020-01039-z⟩
Journal articles hal-03127056v1
Image document

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

Rima Nabbout , Nicole Chemaly , Mathilde Chipaux , Giulia Barcia , Charles Bouis et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.176. ⟨10.1186/1750-1172-8-176⟩
Journal articles inserm-00915201v1

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang , Jiqiang Ling , Giulia Barcia , Lili Jing , Jiang Wu et al.
American Journal of Human Genetics, 2014, 94 (4), pp.547-558. ⟨10.1016/j.ajhg.2014.03.003⟩
Journal articles hal-02142133v1
Image document

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

Giulia Barcia , Sonia Khirani , Alessandro Amaddeo , Zahra Assouline , Alessandra Pennisi et al.
Neuromuscular Disorders, 2020, 30, pp.593 - 598. ⟨10.1016/j.nmd.2020.06.002⟩
Journal articles hal-03492110v1
Image document

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha Zaki , Andrea Ciolfi et al.
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.08.008⟩
Journal articles hal-03790588v1
Image document

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

Ekin Ucuncu , Karthyayani Rajamani , Miranda S C Wilson , Daniel Medina-Cano , Nami Altin et al.
Nature Communications, 2020, 11, ⟨10.1038/s41467-020-19919-y⟩
Journal articles hal-03856267v1
Image document

SYNGAP1-DEE: A visual sensitive epilepsy

Tommaso Lo Barco , Anna Kaminska , Roberta Solazzi , Claude Cancés , Giulia Barcia et al.
Clinical Neurophysiology, 2021, 132 (4), pp.841-850. ⟨10.1016/j.clinph.2021.01.014⟩
Journal articles hal-03255478v1
Image document

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

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson et al.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1
Image document

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations

Charles-Joris Roux , Giulia Barcia , Manuel Schiff , Marie Sissler , Raphaël Levy et al.
Molecular Genetics and Metabolism, 2021, 133 (2), pp.222-229. ⟨10.1016/j.ymgme.2021.04.004⟩
Journal articles hal-03365760v1

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

Mathieu Kuchenbuch , Pascal Benquet , Anna Kaminska , Agathe Roubertie , Emilie Carme et al.
Epilepsia, 2019, 60 (1), pp.20-32. ⟨10.1111/epi.14605⟩
Journal articles hal-01975568v1

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation

Marion Coolen , Nami Altin , Karthyayani Rajamani , Eva Pereira , Karine Siquier-Pernet et al.
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩
Journal articles hal-03654319v1

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

Cérane Cafournet , Sofia Zanin , Anne Guimier , Marie Hully , Zahra Assouline et al.
Life, 2023, 13 (2), pp.445. ⟨10.3390/life13020445⟩
Journal articles hal-04096024v1

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Marie Hully , Tommaso Lo Barco , Anna Kaminska , Giulia Barcia , Claude Cances et al.
Genetics in Medicine, 2021, 23 (5), pp.968-971. ⟨10.1038/s41436-020-01039-z⟩
Journal articles hal-03967477v1
Image document

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

Mathieu Kuchenbuch , Giulia Barcia , Nicole Chemaly , Emilie Carme , Agathe Roubertie et al.
Brain - A Journal of Neurology , 2019, 142 (10), pp.2996-3008. ⟨10.1093/brain/awz240⟩
Journal articles hal-02304375v1
Image document

Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variability

Giulia Barcia , Nicole Chemaly , Mathieu Kuchenbuch , Monika Eisermann , Stephanie Gobin-Limballe et al.
Neurology Genetics, 2019, 5 (6), pp.e363. ⟨10.1212/NXG.0000000000000363⟩
Journal articles hal-02498046v1
Image document

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

Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider et al.
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Journal articles hal-02302579v1

Pitfalls in molecular diagnosis of Friedreich ataxia

Giulia Barcia , Myriam Rachid , Maryse Magen , Zahra Assouline , Michel Koenig et al.
European Journal of Medical Genetics, 2018, 61 (8), pp.455--458. ⟨10.1016/j.ejmg.2018.03.004⟩
Journal articles hal-02350803v1
Image document

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

Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson et al.
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Journal articles hal-02959318v1

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

Huy Hoang Nguyen , van Anh Pham , Giulia Barcia , Valérie Malan , Kiem Lien Thi Nguyen et al.
American Journal of Medical Genetics Part A, 2018, 176 (9), pp.1981-1984. ⟨10.1002/ajmg.a.40375⟩
Journal articles hal-02087784v1