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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
by
Absalom, Nathan L.
,
Liao, Vivian W. Y.
,
Johannesen, Katrine M. H.
,
Gardella, Elena
,
Jacobs, Julia
,
Lesca, Gaetan
,
Gokce-Samar, Zeynep
,
Arzimanoglou, Alexis
,
Zeidler, Shimriet
,
Striano, Pasquale
,
Meyer, Pierre
,
Benkel-Herrenbrueck, Ira
,
Mero, Inger-Lise
,
Rummel, Jutta
,
Chebib, Mary
,
Møller, Rikke S.
,
Ahring, Philip K.
Published in
Nature communications
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De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
by
Ahmad, Natalie
,
Fazeli, Walid
,
Schließke, Sophia
,
Lesca, Gaetan
,
Gokce-Samar, Zeynep
,
Mekbib, Kedous Y.
,
Jin, Sheng Chih
,
Burton, Jennifer
,
Hoganson, George
,
Petersen, Andrea
,
Gracie, Sara
,
Granger, Leslie
,
Bartels, Enrika
,
Oppermann, Henry
,
Kundishora, Adam
,
Till, Marianne
,
Milleret-Pignot, Clara
,
Dangerfield, Shane
,
Viskochil, David
,
Anderson, Katherine J.
,
Palculict, Timothy Blake
,
Schnur, Rhonda E.
,
Wentzensen, Ingrid M.
,
Tiller, George E.
,
Kahle, Kristopher T.
,
Kunz, Wolfram S.
,
Burkart, Sebastian
,
Simons, Matias
,
Sticht, Heinrich
,
Abou Jamra, Rami
,
Neuser, Sonja
Published in
Pediatric neurology
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Predictive factors and prognostic value for status epilepticus in newborns
by
Gokce-Samar, Zeynep
,
Ostrowsky-Coste, Karine
,
Gauthier-Morel, Dominique
,
Keo-Kosal, Pascale
,
De Regnauld De Bellescize, Julitta
,
Montavont, Alexandra
,
Panagiotakaki, Eleni
,
Claris, Olivier
,
Arzimanoglou, Alexis
Published in
European journal of paediatric neurology
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