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Items: 1 to 50 of 160

1.

Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models.

Tauzin M, Tréluyer JM, Nabbout R, Billette de Villemeur T, Desguerre I, Aboura R, Gana I, Zheng Y, Benaboud S, Bouazza N, Chenevier-Gobeaux C, Freihuber C, Hirt D.

J Clin Pharmacol. 2018 Nov 9. doi: 10.1002/jcph.1333. [Epub ahead of print]

PMID:
30412268
2.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Oct 2. doi: 10.1038/s41436-018-0327-7. [Epub ahead of print]

PMID:
30279470
3.

Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex - Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy.

de Vries PJ, Franz DN, Curatolo P, Nabbout R, Neary M, Herbst F, Sully K, Brohan E, Bennett B, Lawson JA.

Front Pharmacol. 2018 Aug 30;9:964. doi: 10.3389/fphar.2018.00964. eCollection 2018.

4.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Sep 12. doi: 10.1038/s41436-018-0268-1. [Epub ahead of print] Erratum in: Genet Med. 2018 Oct 2;:.

PMID:
30206421
5.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.

de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators.

Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8.

6.

Proposition of a Minimal Effective Dose of Vigabatrin for the Treatment of Infantile Spasms Using Pediatric and Adult Pharmacokinetic Data.

Ounissi M, Rodrigues C, Bienayme H, Duhamel P, Pons G, Dulac O, Nabbout R, Chiron C, Jullien V.

J Clin Pharmacol. 2018 Sep 7. doi: 10.1002/jcph.1309. [Epub ahead of print]

PMID:
30192381
7.

Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial.

Curatolo P, Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, de Vries PJ, Dlugos DJ, Fan J, Ridolfi A, Pelov D, Voi M, French JA.

Lancet Child Adolesc Health. 2018 Jul;2(7):495-504. doi: 10.1016/S2352-4642(18)30099-3. Epub 2018 May 24.

PMID:
30169322
8.

Do children with Dravet syndrome continue to benefit from stiripentol for long through adulthood?

Chiron C, Helias M, Kaminska A, Laroche C, de Toffol B, Dulac O, Nabbout R, An I.

Epilepsia. 2018 Sep;59(9):1705-1717. doi: 10.1111/epi.14536. Epub 2018 Aug 22.

PMID:
30132836
9.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

PMID:
30033060
10.

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations.

Curatolo P, Nabbout R, Lagae L, Aronica E, Ferreira JC, Feucht M, Hertzberg C, Jansen AC, Jansen F, Kotulska K, Moavero R, O'Callaghan F, Papavasiliou A, Tzadok M, Jóźwiak S.

Eur J Paediatr Neurol. 2018 Sep;22(5):738-748. doi: 10.1016/j.ejpn.2018.05.006. Epub 2018 May 24. Review.

PMID:
29880258
11.

Challenges in managing epilepsy associated with focal cortical dysplasia in children.

Wong-Kisiel LC, Blauwblomme T, Ho ML, Boddaert N, Parisi J, Wirrell E, Nabbout R.

Epilepsy Res. 2018 Sep;145:1-17. doi: 10.1016/j.eplepsyres.2018.05.006. Epub 2018 May 14. Review.

PMID:
29803953
12.

Electrocorticographic telemetric recording in unrestrained mouse pups.

Chemaly N, Nehlig A, Chiron C, Nabbout R.

J Neurosci Methods. 2018 Jul 15;305:17-27. doi: 10.1016/j.jneumeth.2018.04.020. Epub 2018 May 1.

PMID:
29727612
13.

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D' Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators.

Nephrol Dial Transplant. 2018 Apr 25. doi: 10.1093/ndt/gfy063. [Epub ahead of print]

PMID:
29697822
14.

Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study.

Bar C, Kaminska A, Nabbout R.

Epilepsy Res. 2018 Jul;143:75-78. doi: 10.1016/j.eplepsyres.2018.03.020. Epub 2018 Mar 28.

PMID:
29674168
15.

Off-label use and manipulations of antiepileptic drugs in children: Analysis of the outpatient prescriptions in a tertiary center.

Kuchenbuch M, Chemaly N, Henniene KM, Kaminska A, Chiron C, Nabbout R.

Epilepsy Behav. 2018 May;82:133-139. doi: 10.1016/j.yebeh.2018.03.013. Epub 2018 Apr 3.

PMID:
29625363
16.

New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives.

Gaspard N, Hirsch LJ, Sculier C, Loddenkemper T, van Baalen A, Lancrenon J, Emmery M, Specchio N, Farias-Moeller R, Wong N, Nabbout R.

Epilepsia. 2018 Apr;59(4):745-752. doi: 10.1111/epi.14022. Epub 2018 Feb 24. Review.

PMID:
29476535
17.

Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions.

Hirsch LJ, Gaspard N, van Baalen A, Nabbout R, Demeret S, Loddenkemper T, Navarro V, Specchio N, Lagae L, Rossetti AO, Hocker S, Gofton TE, Abend NS, Gilmore EJ, Hahn C, Khosravani H, Rosenow F, Trinka E.

Epilepsia. 2018 Apr;59(4):739-744. doi: 10.1111/epi.14016. Epub 2018 Feb 5. Review.

PMID:
29399791
18.

Development and content validation of a preliminary core set of patient- and caregiver-relevant outcomes for inclusion in a potential composite endpoint for Dravet Syndrome.

Nabbout R, Auvin S, Chiron C, Irwin J, Mistry A, Bonner N, Williamson N, Bennett B.

Epilepsy Behav. 2018 Jan;78:232-242. doi: 10.1016/j.yebeh.2017.08.029. Epub 2017 Nov 4.

19.

Urgent need to implement transition programs.

Nabbout R.

Epilepsy Behav. 2017 Aug;73:285. doi: 10.1016/j.yebeh.2017.04.013. Epub 2017 Jul 11. No abstract available.

PMID:
28709815
20.

Age-related "Sleep/nocturnal" tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome.

Losito E, Kuchenbuch M, Chemaly N, Laschet J, Chiron C, Kaminska A, Nabbout R.

Epilepsy Behav. 2017 Sep;74:33-40. doi: 10.1016/j.yebeh.2017.05.037. Epub 2017 Jul 3.

PMID:
28683344
21.

Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.

Andrade DM, Bassett AS, Bercovici E, Borlot F, Bui E, Camfield P, Clozza GQ, Cohen E, Gofine T, Graves L, Greenaway J, Guttman B, Guttman-Slater M, Hassan A, Henze M, Kaufman M, Lawless B, Lee H, Lindzon L, Lomax LB, McAndrews MP, Menna-Dack D, Minassian BA, Mulligan J, Nabbout R, Nejm T, Secco M, Sellers L, Shapiro M, Slegr M, Smith R, Szatmari P, Tao L, Vogt A, Whiting S, Carter Snead O 3rd.

Epilepsia. 2017 Sep;58(9):1502-1517. doi: 10.1111/epi.13832. Epub 2017 Jul 6.

22.

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.

Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group.

N Engl J Med. 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618.

23.

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Jenkinson EM, Livingston JH, O'Driscoll MC, Desguerre I, Nabbout R, Boddaert N, Soares G, Gonçalves da Rocha M, D'Arrigo S, Rice GI, Crow YJ.

Clin Genet. 2018 Feb;93(2):228-234. doi: 10.1111/cge.13025. Epub 2017 Aug 3.

PMID:
28386946
24.

Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis?

Benjumea-Cuartas V, Eisermann M, Simonnet H, Hully M, Nabbout R, Desguerre I, Kaminska A.

Epilepsy Behav Case Rep. 2017 Jan 18;7:42-44. doi: 10.1016/j.ebcr.2016.12.002. eCollection 2017.

25.

Epileptic spasms in congenital disorders of glycosylation.

Pereira AG, Bahi-Buisson N, Barnerias C, Boddaert N, Nabbout R, de Lonlay P, Kaminska A, Eisermann M.

Epileptic Disord. 2017 Mar 1;19(1):15-23. doi: 10.1684/epd.2017.0901.

26.

Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: A French multicenter retrospective study.

Stenger E, Schaeffer M, Cances C, Motte J, Auvin S, Ville D, Maurey H, Nabbout R, de Saint-Martin A.

Epilepsy Res. 2017 Mar;131:64-69. doi: 10.1016/j.eplepsyres.2017.02.005. Epub 2017 Feb 20.

PMID:
28273610
27.

Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues.

Nabbout R, Andrade DM, Bahi-Buisson N, Cross H, Desquerre I, Dulac O, Granata T, Hirsch E, Navarro V, Ouss L, Pearl PL, Schmidt D, Thiele E, Camfield PR, Camfield CS.

Epilepsy Behav. 2017 Apr;69:161-169. doi: 10.1016/j.yebeh.2016.11.010. Epub 2017 Feb 28. Review.

PMID:
28256379
28.

Treatment issues for children with epilepsy transitioning to adult care.

Nabbout R, Camfield CS, Andrade DM, Arzimanoglou A, Chiron C, Cramer JA, French JA, Kossoff E, Mula M, Camfield PR.

Epilepsy Behav. 2017 Apr;69:153-160. doi: 10.1016/j.yebeh.2016.11.008. Epub 2017 Feb 8. Review.

PMID:
28188045
29.

The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues.

Camfield P, Camfield C, Busiah K, Cohen D, Pack A, Nabbout R.

Epilepsy Behav. 2017 Apr;69:170-176. doi: 10.1016/j.yebeh.2016.11.009. Epub 2017 Jan 13. Review.

PMID:
28089368
30.

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.

Kingswood JC, d'Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries PJ, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Benedik MP, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA consortium and TOSCA investigators.

Orphanet J Rare Dis. 2017 Jan 5;12(1):2. doi: 10.1186/s13023-016-0553-5.

31.

Spatial and temporal assessment of surface water quality in the Arka River, Akkar, Lebanon.

Daou C, Nabbout R, Kassouf A.

Environ Monit Assess. 2016 Dec;188(12):684. Epub 2016 Nov 22.

PMID:
27878544
32.

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.

French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Berkowitz N, Voi M, Peyrard S, Pelov D, Franz DN.

Lancet. 2016 Oct 29;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2. Epub 2016 Sep 6.

33.

Stimulation of Slack K(+) Channels Alters Mass at the Plasma Membrane by Triggering Dissociation of a Phosphatase-Regulatory Complex.

Fleming MR, Brown MR, Kronengold J, Zhang Y, Jenkins DP, Barcia G, Nabbout R, Bausch AE, Ruth P, Lukowski R, Navaratnam DS, Kaczmarek LK.

Cell Rep. 2016 Aug 30;16(9):2281-8. doi: 10.1016/j.celrep.2016.07.024. Epub 2016 Aug 18.

34.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium, Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D.

Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18.

35.

Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study.

De Liso P, Chemaly N, Laschet J, Barnerias C, Hully M, Leunen D, Desguerre I, Chiron C, Dulac O, Nabbout R.

Epilepsy Res. 2016 Sep;125:42-6. doi: 10.1016/j.eplepsyres.2016.05.012. Epub 2016 May 28.

PMID:
27389706
36.

Motor neuropathy contributes to crouching in patients with Dravet syndrome.

Gitiaux C, Chemaly N, Quijano-Roy S, Barnerias C, Desguerre I, Hully M, Chiron C, Dulac O, Nabbout R.

Neurology. 2016 Jul 19;87(3):277-81. doi: 10.1212/WNL.0000000000002859. Epub 2016 Jun 17.

PMID:
27316242
37.

Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome.

Kurbatova P, Wendling F, Kaminska A, Rosati A, Nabbout R, Guerrini R, Dulac O, Pons G, Cornu C, Nony P; CRESIM/EpiCRESIM Study Group, Chiron C, Benquet P.

Exp Neurol. 2016 Sep;283(Pt A):57-72. doi: 10.1016/j.expneurol.2016.05.037. Epub 2016 May 28.

38.

ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate.

Rheims S, Herbillon V, Villeneuve N, Auvin S, Napuri S, Cances C, Berquin P, Castelneau P, Nguyen The Tich S, Villega F, Isnard H, Nabbout R, Gaillard S, Mercier C, Kassai B, Arzimanoglou A; investigators of the Paediatric Epilepsy REsearch NEtwork (PERENE).

Epilepsia. 2016 Jul;57(7):1069-77. doi: 10.1111/epi.13420. Epub 2016 May 29.

39.

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.

Breuillard D, Leunen D, Chemaly N, Auclair L, Pinard JM, Kaminska A, Desguerre I, Ouss L, Nabbout R.

Epilepsy Behav. 2016 Jul;60:75-80. doi: 10.1016/j.yebeh.2016.04.009. Epub 2016 May 12.

PMID:
27179713
40.

Arterial spin labeling shows pre-epileptic tuber hyperperfusion in tuberous sclerosis complex.

Hully M, Grevent D, Breuillard D, Brunelle F, Chemaly N, Calmon R, Boddaert N, Nabbout R.

Neurology. 2016 May 3;86(18):1744-5. doi: 10.1212/WNL.0000000000002636. No abstract available.

PMID:
27164650
41.

Novel GABRG2 mutations cause familial febrile seizures.

Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Iacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S.

Neurol Genet. 2015 Nov 4;1(4):e35. doi: 10.1212/NXG.0000000000000035. eCollection 2015 Dec.

42.

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.

Chipaux M, Szurhaj W, Vercueil L, Milh M, Villeneuve N, Cances C, Auvin S, Chassagnon S, Napuri S, Allaire C, Derambure P, Marchal C, Caubel I, Ricard-Mousnier B, N'Guyen The Tich S, Pinard JM, Bahi-Buisson N, de Baracé C, Kahane P, Gautier A, Hamelin S, Coste-Zeitoun D, Rosenberg SD, Clerson P, Nabbout R, Kuchenbuch M, Picot MC, Kaminska A; GRENAT Group.

Epilepsia. 2016 May;57(5):757-69. doi: 10.1111/epi.13368. Epub 2016 Apr 1.

43.

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions.

Curatolo P, Bjørnvold M, Dill PE, Ferreira JC, Feucht M, Hertzberg C, Jansen A, Jóźwiak S, Kingswood JC, Kotulska K, Macaya A, Moavero R, Nabbout R, Zonnenberg BA.

Drugs. 2016 Apr;76(5):551-65. doi: 10.1007/s40265-016-0552-9. Review.

PMID:
26927950
44.

Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.

Gataullina S, Lemaire E, Wendling F, Kaminska A, Watrin F, Riquet A, Ville D, Moutard ML, de Saint Martin A, Napuri S, Pedespan JM, Eisermann M, Bahi-Buisson N, Nabbout R, Chiron C, Dulac O, Huberfeld G.

Epilepsia. 2016 Apr;57(4):648-59. doi: 10.1111/epi.13325. Epub 2016 Feb 13.

45.

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S.

Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12.

46.

In situ evaluation of the fruit and oil characteristics of the main Lebanese olive germplasm.

Chehade A, Bitar AE, Kadri A, Choueiri E, Nabbout R, Youssef H, Smeha M, Awada A, Chami ZA, Dubla E, Trani A, Mondelli D, Famiani F.

J Sci Food Agric. 2016 May;96(7):2532-8. doi: 10.1002/jsfa.7373. Epub 2015 Sep 9.

PMID:
26250960
47.

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM.

Epilepsia. 2015 Sep;56(9):e114-20. doi: 10.1111/epi.13071. Epub 2015 Jun 30.

48.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

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PMID:
25454505

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