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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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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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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.
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.
Journal articles
hal-01919142v1
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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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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.
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.
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.
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.
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.
Journal articles
hal-02959318v1
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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.
Journal articles
hal-01274304v1
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