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Moller, Rikke S
709
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1
Seizure and movement disorder in CACNA1E developmental and ..:
Di Micco, Valentina
;
Affronte, Leonardo
;
Khinchi, Marianne Søndergaard
...
Epileptic Disorders. , 2024
Link:
https://doi.org/10.1002/..
?
2
Genotype–phenotype associations in 1018 individuals with SC..:
Gallagher, Declan
;
Pérez‐Palma, Eduardo
;
Bruenger, Tobias
...
Epilepsia. 65 (2024) 4 - p. 1046-1059 , 2024
Link:
https://doi.org/10.1111/..
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3
Multiomic analysis implicates nuclear hormone receptor sign..:
de Nys, Rebekah
;
van Eyk, Clare L.
;
Ritchie, Tarin
...
Translational Psychiatry. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
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4
Epilepsy as a Novel Phenotype of BPTF-Related Disorders:
Ferretti, Alessandro
;
Furlan, Margherita
;
Glinton, Kevin E.
...
Pediatric Neurology. 158 (2024) - p. 17-25 , 2024
Link:
https://doi.org/10.1016/..
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5
Generation of two patient specific GABRD variants and their..:
Kamand, Morad
;
Taleb, Reema
;
Wathikthinnakon, Methi
...
Stem Cell Research. 76 (2024) - p. 103372 , 2024
Link:
https://doi.org/10.1016/..
?
6
Haploinsufficiency underlies the neurodevelopmental consequ..:
Silva, Dina Buitrago
;
Trinidad, Marena
;
Ljungdahl, Alicia
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1222-1238 , 2024
Link:
https://doi.org/10.1016/..
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7
Providing quality care for people with CDKL5 deficiency dis..:
Amin, Sam
;
Møller, Rikke S.
;
Aledo‐Serrano, Angel
...
Epilepsia Open. 9 (2024) 3 - p. 832-849 , 2024
Link:
https://doi.org/10.1002/..
?
8
Phenotypic and functional assessment of two novel KCNQ2 gai..:
Bayat, Allan
;
Iavarone, Stefano
;
Miceli, Francesco
...
Neurotherapeutics. 21 (2024) 1 - p. e00296 , 2024
Link:
https://doi.org/10.1016/..
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9
Emergence of lingual dystonia and strabismus in early‐onset..:
Ancora, Caterina
;
Ortigoza‐Escobar, Juan Dario
;
Valletti, Margherita Aluffi
...
Epileptic Disorders. 26 (2024) 2 - p. 219-224 , 2024
Link:
https://doi.org/10.1002/..
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10
Clinical and electrophysiological features of SCN8A variant..:
Lyu, Hang
;
Boßelmann, Christian M.
;
Johannesen, Katrine M.
...
eBioMedicine. 98 (2023) - p. 104855 , 2023
Link:
https://doi.org/10.1016/..
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11
Data-driven historical characterization of epilepsy-associa..:
Macnee, Marie
;
Pérez-Palma, Eduardo
;
López-Rivera, Javier A.
...
European Journal of Paediatric Neurology. 42 (2023) - p. 82-87 , 2023
Link:
https://doi.org/10.1016/..
?
12
Variation in prognosis and treatment outcome in juvenile my..:
Rubboli, Guido
;
Beier, Christoph P
;
Selmer, Kaja K
...
Brain Communications. 5 (2023) 3 - p. , 2023
Link:
https://doi.org/10.1093/..
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13
Corrigendum: Intrafamilial variability in SLC6A1-related ne..:
Kassabian, Benedetta
;
Fenger, Christina Dühring
;
Willems, Marjolaine
...
Frontiers in Neuroscience. 17 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
14
D-galactose Supplementation for the Treatment of Mild Malfo..:
Aledo-Serrano, Ángel
;
Valls-Carbó, Adrián
;
Fenger, Christina D.
...
Neurotherapeutics. 20 (2023) 5 - p. 1294-1304 , 2023
Link:
https://doi.org/10.1007/..
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15
Generation of eight hiPSCs lines from two pathogenic varian..:
Rivera-Sánchez, Paula
;
Søndergaard, Line
;
Wathikthinnakon, Methi
...
Stem Cell Research. 71 (2023) - p. 103193 , 2023
Link:
https://doi.org/10.1016/..
1-15