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authFullName_s : Rima Nabbout

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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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

In silico model reveals the key role of GABA in KCNT1-epilepsy in infancy with migrating focal seizures

Mathieu Kuchenbuch , Rima Nabbout , Maxime Yochum , Paul Sauleau , Julien Modolo et al.
Epilepsia, 2021, 62 (3), pp.683-697. ⟨10.1111/epi.16834⟩
Journal articles hal-03156565v1
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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.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1

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

Ictal EEG quantification in epilepsy of infancy with migrating focal seizures (EIMFS): from seizure dynamics to EEG-based markers

M. Kuchenbuch , Pascal Benquet , A. Kamińska-Pranke , F. Wendling , Rima Nabbout et al.
European Journal of Neurology, 2020, 27, pp.603-603
Journal articles hal-02879962v1
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Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome.

Polina Kurbatova , Fabrice Wendling , Anna Kaminska , Anna Rosati , Rima Nabbout et al.
Experimental Neurology, 2016, 283 (Pt A), pp.57-72. ⟨10.1016/j.expneurol.2016.05.037⟩
Journal articles inserm-01341764v1
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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.
Neurology Genetics, 2019, 5 (6), pp.e363. ⟨10.1212/NXG.0000000000000363⟩
Journal articles hal-02498046v1
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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.
Brain - A Journal of Neurology , 2019, 142 (10), pp.2996-3008. ⟨10.1093/brain/awz240⟩
Journal articles hal-02304375v1
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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.
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Journal articles hal-02302579v1
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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.
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Journal articles hal-02959318v1

Epilepsy in young Tsc1+/− mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex

Svetlana Gataullina , Eric Lemaire , Fabrice Wendling , Anna Kaminska , Françoise Watrin et al.
Epilepsia, 2016, 57 (4), pp.648-659. ⟨10.1111/epi.13325⟩
Journal articles hal-01274304v1