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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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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Mathieu Milh
,
Nadia Boutry-Kryza
,
Julie Sutera-Sardo
,
Cyril Mignot
,
Stéphane Auvin
,
et al.
Journal articles
inserm-00829466v1
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Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy
Thierry Bienvenu
,
Isabelle Souville
,
Karine Poirier
,
Cécile Aquaviva
,
Lydie Burglen
,
et al.
Journal articles
hal-04142737v1
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Persistence of Cortical Sensory Processing during Absence Seizures in Human and an Animal Model: Evidence from EEG and Intracellular Recordings
Mathilde Chipaux
,
Laurent Vercueil
,
Anna Kaminska
,
Séverine Mahon
,
Stéphane Charpier
Journal articles
hal-01618723v1
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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
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et al.
Journal articles
inserm-01341764v1
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Rapid cortical oscillations and early motor activity in premature human neonate.
Mathieu Milh
,
Anna Kaminska
,
Catherine Huon
,
Alexandre Lapillonne
,
Yehezkel Ben-Ari
,
et al.
Journal articles
inserm-00483869v1
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A novel locus for generalized epilepsy with febrile seizures plus in French families.
Stéphanie Baulac
,
Isabelle Gourfinkel-An
,
Philippe Couarch
,
Christel Depienne
,
Anna Kaminska
,
et al.
Archives of Neurology -Chigago-, 2008, pp.65(7):943-51
Journal articles
inserm-00306473v1
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