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Author/Creator Altuzarra, Cecilia

1. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients. (July 2021)

Authors:
Le Roux, Marie; Barth, Magalie; Gueden, Sophie; Desbordes de Cepoy, Patrick; Aeby, Alec; Vilain, Catheline; Hirsch, Edouard; de Saint Martin, Anne; Portes, Vincent des; Lesca, Gaëtan; Riquet, Audrey; Chaton, Laurence; Villeneuve, Nathalie; Villard, Laurent; Cances, Claude; Valton, Luc; Renaldo, F...
Journal:
European journal of paediatric neurology
Issue:
Volume 33(2021)
Page Start:
75
Record Type:
Journal Article
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2. Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures. (26th April 2019)

Authors:
Denis, Julien; Villeneuve, Nathalie; Cacciagli, Pierre; Mignon‐Ravix, Cecile; Lacoste, Caroline; Lefranc, Jeremie; Napuri, Sylvia; Damaj, Lena; Villega, Frederic; Pedespan, Jean‐Michel; Moutton, Sebastien; Mignot, Cyril; Doummar, Diane; Lion‐François, Laurence; Gataullina, Svetlana; Dulac, Olivie...
Journal:
Epilepsia
Issue:
Volume 60:issue 5(2019)
Page Start:
845
Record Type:
Journal Article
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3. Functional classification of ATM variants in ataxia‐telangiectasia patients. Issue 10 (17th May 2019)

Authors:
Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean‐Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie,...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1713
Record Type:
Journal Article
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4. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. Issue 6 (12th June 2012)

Authors:
Thevenon, Julien; Lopez, Estelle; Keren, Boris; Heron, Delphine; Mignot, Cyril; Altuzarra, Cecilia; Béri-Dexheimer, Mylène; Bonnet, Céline; Magnin, Eloi; Burglen, Lydie; Minot, Delphine; Vigneron, Jacqueline; Morle, Sophie; Anheim, Mathieu; Charles, Perrine; Brice, Alexis; Gallagher, Louise; Amie...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 6(2012)
Page Start:
400
Record Type:
Journal Article
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