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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.
Article dans une revue
hal-03485808v1
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New insights into CC2D2A -related Joubert syndrome
Madeleine Harion
,
Leila Qebibo
,
Audrey Riquet
,
Christelle Rougeot
,
Alexandra Afenjar
,
et al.
Article dans une revue
hal-03837222v1
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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
Julie Pilliod
,
Sébastien Moutton
,
Julie Lavie
,
Elise Maurat
,
Christophe Hubert
,
et al.
Article dans une revue
istex
hal-01955612v1
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Davor Lessel
,
Christina Gehbauer
,
Nuria C. Bramswig
,
Caroline Schluth-Bolard
,
Sathish Venkataramanappa
,
et al.
Article dans une revue
hal-03600553v1
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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Christel Depienne
,
Delphine Bouteiller
,
Boris Keren
,
Emmanuel Cheuret
,
Karine Poirier
,
et al.
Article dans une revue
hal-02566769v1
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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.
Article dans une revue
hal-02302579v1
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