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Djémié, Tania
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1

Biallelic gephyrin variants lead to impaired GABAergic inhi..:

Macha, Arthur ; Liebsch, Filip ; Fricke, Steffen...
Human Molecular Genetics.  31 (2021)  6 - p. 901-913 , 2021
Link: https://doi.org/10.1093/..
 
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2

Diagnostic implications of genetic copy number variation in..:

Coppola, Antonietta ; Cellini, Elena ; Stamberger, Hannah...
Epilepsia.  60 (2019)  4 - p. 689-706 , 2019
Link: https://doi.org/10.1111/..
 
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3

NBEA: Developmental disease gene with early generalized epi..:

Mulhern, Maureen S. ; Stumpel, Constance ; Stong, Nicholas...
Annals of Neurology.  84 (2018)  5 - p. 788-795 , 2018
Link: https://doi.org/10.1002/..
 
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4

De Novo Mutations in Synaptic Transmission Genes Including ..:

Appenzeller, Silke ; Balling, Rudi ; Barisic, Nina...
The American Journal of Human Genetics.  100 (2017)  1 - p. 179 , 2017
Link: https://doi.org/10.1016/..
 
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5

Simultaneous impairment of neuronal and metabolic function ..:

Dejanovic, Borislav ; Djémié, Tania ; Grünewald, Nora...
EMBO Molecular Medicine.  9 (2017)  12 - p. 1764-1764 , 2017
Link: https://doi.org/10.15252..
 
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6

Phenotypic spectrum ofGABRA1: From generalized epilepsies t..:

Johannesen, Katrine ; Marini, Carla ; Pfeffer, Siona...
Neurology.  87 (2016)  11 - p. 1140-1151 , 2016
Link: https://doi.org/10.1212/..
 
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7

Targeted sequencing of 351 candidate genes for epileptic en..:

de Kovel, Carolien G.F. ; Brilstra, Eva H. ; van Kempen, Marjan J.A....
Molecular Genetics & Genomic Medicine.  4 (2016)  5 - p. 568-580 , 2016
Link: https://doi.org/10.1002/..
 
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8

Loss of SYNJ1 dual phosphatase activity leads to early onse..:

Hardies, Katia ; Cai, Yiying ; Jardel, Claude...
Brain.  139 (2016)  9 - p. 2420-2430 , 2016
Link: https://doi.org/10.1093/..
 
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9

Pitfalls in genetic testing: the story of missed SCN1A muta..:

Djémié, Tania ; Weckhuysen, Sarah ; von Spiczak, Sarah...
Molecular Genetics & Genomic Medicine.  4 (2016)  4 - p. 457-464 , 2016
Link: https://doi.org/10.1002/..
 
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10

De novo loss- or gain-of-function mutations in KCNA2 cause ..:

EuroEPINOMICS RES ; Syrbe, Steffen ; Hedrich, Ulrike B S...
Nature Genetics.  47 (2015)  4 - p. 393-399 , 2015
Link: https://doi.org/10.1038/..
 
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11

Simultaneous impairment of neuronal and metabolic function ..:

Dejanovic, Borislav ; Djémié, Tania ; Grünewald, Nora...
EMBO Molecular Medicine.  7 (2015)  12 - p. 1580-1594 , 2015
Link: https://doi.org/10.15252..
 
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12

The phenotypic spectrum ofSCN8Aencephalopathy:

Larsen, Jan ; Carvill, Gemma L. ; Gardella, Elena...
Neurology.  84 (2015)  5 - p. 480-489 , 2015
Link: https://doi.org/10.1212/..
 
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13

Recessive loss-of-function mutations in AP4S1 cause mild fe..:

Hardies, Katia ; May, Patrick ; Djémié, Tania...
Human Molecular Genetics.  24 (2014)  8 - p. 2218-2227 , 2014
Link: https://doi.org/10.1093/..
 
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