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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
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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.
Journal articles
inserm-01322562v1
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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.
Journal articles
hal-02044797v1
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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 articles
hal-03244899v1
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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.
Journal articles
hal-02017665v1
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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.
Journal articles
hal-03151207v1
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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy
Claire Bar
,
Delphine Breuillard
,
Mathieu Kuchenbuch
,
Mélanie Jennesson
,
Gwenaël Le Guyader
et al.
Journal articles
hal-03485808v1
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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.
Journal articles
hal-03820933v1
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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.
Journal articles
hal-04042113v1
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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.
Journal articles
hal-02090149v1
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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.
Journal articles
hal-02997569v1
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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.
Journal articles
hal-03127056v1
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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.
Journal articles
inserm-00915201v1
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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.
Journal articles
hal-02142133v1
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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.
Journal articles
hal-03492110v1
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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.
Journal articles
hal-03790588v1
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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.
Journal articles
hal-03856267v1
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SYNGAP1-DEE: A visual sensitive epilepsy
Tommaso Lo Barco
,
Anna Kaminska
,
Roberta Solazzi
,
Claude Cancés
,
Giulia Barcia
et al.
Journal articles
hal-03255478v1
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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.
Journal articles
hal-01919142v1
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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.
Journal articles
hal-03365760v1
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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.
Journal articles
hal-01975568v1
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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.
Journal articles
hal-03654319v1
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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.
Journal articles
hal-04096024v1
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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.
Journal articles
hal-03967477v1
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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.
Journal articles
hal-02304375v1
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Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variability
Giulia Barcia
,
Nicole Chemaly
,
Mathieu Kuchenbuch
,
Monika Eisermann
,
Stephanie Gobin-Limballe
et al.
Journal articles
hal-02498046v1
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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.
Journal articles
hal-02302579v1
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Pitfalls in molecular diagnosis of Friedreich ataxia
Giulia Barcia
,
Myriam Rachid
,
Maryse Magen
,
Zahra Assouline
,
Michel Koenig
et al.
Journal articles
hal-02350803v1
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
Claire Bar
,
Mathieu Kuchenbuch
,
Giulia Barcia
,
Amy Schneider
,
Mélanie Jennesson
et al.
Journal articles
hal-02959318v1
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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.
Journal articles
hal-02087784v1
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