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Page 1
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
Riant F, Roos C, Roubertie A, Barbance C, Hadjadj J, Auvin S, Baille G, Beltramone M, Boulanger C, Cahn A, Cata F, Cheuret E, Cuvellier JC, Defo A, Demarquay G, Donnet A, Gaillard N, Massardier E, Guy N, Lamoureux S, Le Moigno L, Lucas C, Ratiu D, Redon S, Rey C, Thauvin C, Viallet F, Tournier-Lasserve E, Ducros A. Riant F, et al. Among authors: roubertie a. Neurology. 2022 Jan 4;98(1):e51-e61. doi: 10.1212/WNL.0000000000012947. Epub 2021 Oct 14. Neurology. 2022. PMID: 34649875
Perfusion-weighted MR imaging in persistent hemiplegic migraine.
Mourand I, Menjot de Champfleur N, Carra-Dallière C, Le Bars E, Roubertie A, Bonafé A, Thouvenot E. Mourand I, et al. Among authors: roubertie a. Neuroradiology. 2012 Mar;54(3):255-60. doi: 10.1007/s00234-011-0946-z. Epub 2011 Aug 11. Neuroradiology. 2012. PMID: 21833737
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P. Cloarec R, et al. Among authors: roubertie a. Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077017 Free PMC article.
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Des Portes V, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Singh Amrathlal R, Rochette J, Roubertie A. Delcourt M, et al. Among authors: roubertie a. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16. J Neurol Neurosurg Psychiatry. 2015. PMID: 25595153
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Humbertclaude V, Krams B, Nogue E, Nagot N, Annequin D, Tourniaire B, Tournier-Lasserve E, Riant F, Roubertie A; Episodic Syndromes Consortium. Humbertclaude V, et al. Among authors: roubertie a. Dev Med Child Neurol. 2018 Dec;60(12):1256-1263. doi: 10.1111/dmcn.13935. Epub 2018 Jun 21. Dev Med Child Neurol. 2018. PMID: 29926469 Free article.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Valence S, et al. Among authors: roubertie a. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
Cognitive impairment in children with CACNA1A mutations.
Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium. Humbertclaude V, et al. Among authors: roubertie a. Dev Med Child Neurol. 2020 Mar;62(3):330-337. doi: 10.1111/dmcn.14261. Epub 2019 May 21. Dev Med Child Neurol. 2020. PMID: 31115040 Free 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: roubertie a. Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240. Brain. 2019. PMID: 31532509 Free article.
186 results