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1 . Academic Journal
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study
저자
by
Baer, Sarah
;
Schalk, Audrey
;
Miguet, Marguerite
;
Schaefer, Élise
;
El Chehadeh, Salima
, et al.
소스
In
Pediatric Neurology
October 2024 159:16-25
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7 . Academic Journal
Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome
저자
by
Dozieres-Puyravel, Blandine
;
Nasser, Hala
;
Mauvais, François-Xavier
;
De Saint Martin, Anne
;
Perriard, Caroline
, et al.
소스
In
European Journal of Paediatric Neurology
January 2024 48:61-66
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7 . Academic Journal
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
저자
by
Arnaud, Lionel
;
Abi Warde, Marie-Thérèse
;
Barcia, Giulia
;
de Bellescize, Julitta
;
Chatron, Nicolas
, et al.
소스
In
European Journal of Medical Genetics
March 2022 65(3)
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7 . Academic Journal
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy
저자
by
Bar, Claire
;
Breuillard, Delphine
;
Kuchenbuch, Mathieu
;
Jennesson, Mélanie
;
Le Guyader, Gwenaël
, et al.
소스
In
Epilepsy & Behavior
January 2022 126
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7 . Academic Journal
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
저자
by
Le Roux, Marie
;
Barth, Magalie
;
Gueden, Sophie
;
Desbordes de Cepoy, Patrick
;
Aeby, Alec
, et al.
소스
In
European Journal of Paediatric Neurology
July 2021 33:75-85
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7 . Academic Journal
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
저자
by
Rudolf, Gabrielle
;
de Bellescize, Julitta
;
de Saint Martin, Anne
;
Arzimanoglou, Alexis
;
Valenti Hirsch, Maria Paola
, et al.
소스
In
European Journal of Paediatric Neurology
July 2020 27:104-110
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7 . Academic Journal
Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy
저자
by
Lossius, Kristine
;
de Saint Martin, Anne
;
Myren-Svelstad, Sverre
;
Bjørnvold, Marit
;
Minken, Guro
, et al.
소스
In
Epilepsy & Behavior
April 2020 105
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7 . Academic Journal
Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations
저자
by
Herenger, Yvan
;
Stoetzel, Corinne
;
Schaefer, Elise
;
Scheidecker, Sophie
;
Manière, Marie-Cécile
, et al.
소스
In
European Journal of Medical Genetics
September 2015 58(9):479-487
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7 . Academic Journal
From splitting GLUT1 deficiency syndromes to overlapping phenotypes
저자
by
Hully, Marie
;
Vuillaumier-Barrot, Sandrine
;
Le Bizec, Christiane
;
Boddaert, Nathalie
;
Kaminska, Anna
, et al.
소스
In
European Journal of Medical Genetics
September 2015 58(9):443-454
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7 . Academic Journal
Série de 3 familles avec probable effet fondateur de la variation Arg338*AP4M1 (SPG50) responsable d’une déficience intellectuelle sévère, épilepsie et paraplégie spastique
저자
by
Clément, Guillemette
;
Becker, Aurélie
;
Felici, Charlotte
;
Lambert, Laëtitia
;
De Saint Martin, Anne
, et al.
소스
In
Revue Neurologique
April 2024 180 Supplement:S71-S72
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