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Page 1
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valivullah Z, Weiß C, Möller GM, Frazier Z, Roberts A, Gener B, Scala M, Striano P, Zara F, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Sveden A, Chopra M, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans NC, Jungbluth H, Dafsari HS. Möller B, et al. Among authors: gibaud m. Brain. 2025 Feb 3;148(2):597-612. doi: 10.1093/brain/awae183. Brain. 2025. PMID: 38848546 Free PMC article.
Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database study.
Baer S, Rebert M, Burger P, Mandel JL, Villeneuve N, Gibaud M, Altuzarra C, Villega F, Cances C, Lacan L, Nguyen S, Lesca G, Isnard H, Allani-Essid N, Laugel V, Coutelle R, de Saint Martin A. Baer S, et al. Among authors: gibaud m. Eur J Paediatr Neurol. 2025 Jan;54:121-129. doi: 10.1016/j.ejpn.2025.01.003. Epub 2025 Jan 10. Eur J Paediatr Neurol. 2025. PMID: 39889538
Real-life use of videos in pediatric epilepsy consultations.
Dozières-Puyravel B, Dufour L, Hachon Le Camus C, Abi Warde MT, Cances C, Chemaly N, Gibaud M, Lefranc J, Milh M, Perivier M, Toulouse J, Trauffler A, Vermelle M, Maurey H, Auvin S. Dozières-Puyravel B, et al. Among authors: gibaud m. Epilepsy Behav. 2021 Jan;114(Pt A):107636. doi: 10.1016/j.yebeh.2020.107636. Epub 2020 Dec 10. Epilepsy Behav. 2021. PMID: 33309428
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Gibaud M, Barth M, Lefranc J, Mention K, Villeneuve N, Schiff M, Maurey H, Barthez MA, Caubel I, Chouchane M, Doummar D, Kossorotoff M, Lamblin MD, Roubertie A, Nabbout R, Van Bogaert P. Gibaud M, et al. Front Pediatr. 2021 Mar 5;9:621200. doi: 10.3389/fped.2021.621200. eCollection 2021. Front Pediatr. 2021. PMID: 33748042 Free PMC article.
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, Van Bogaert P, de Saint Martin A, Hirsch E, Dubois F, Sarret C, Nguyen The Tich S, Laroche C, des Portes V, Billette de Villemeur T, Barthez MA, Auvin S, Bahi-Buisson N, Desguerre I, Kaminska A, Benquet P, Nabbout R. Kuchenbuch M, et al. Among authors: gibaud m. Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240. Brain. 2019. PMID: 31532509 Free article.
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