PubMed

Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K.

Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.

Loy KY, Usman M, Lee HE, Brock P.

Australas Psychiatry. 2012 Oct;20(5):444. doi: 10.1177/1039856212447663. No abstract available.

Sonmez FM, Yayli S, Kul S, Celep F, Ozkaya AK, Ersoz S, Erpolat S.

Genet Couns. 2012;23(3):347-52.

Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA.

Nat Genet. 2012 Nov;44(11):1260-4. doi: 10.1038/ng.2425. Epub 2012 Sep 30.

Vitiello G, De Clemente V, Della Casa R, Romano A, Rosa M, Pascarella A, Riccitelli M, Parenti G, Del Giudice E.

Minerva Pediatr. 2012 Oct;64(5):513-20.

Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N.

Epilepsia. 2012 Aug;53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18.

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.

Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D.

Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18.

Glamuzina E, Brown R, Hogarth K, Saunders D, Russell-Eggitt I, Pitt M, de Sousa C, Rahman S, Brown G, Grunewald S.

J Inherit Metab Dis. 2012 May;35(3):459-67. doi: 10.1007/s10545-011-9413-6. Epub 2011 Nov 16.

Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F.

Am J Med Genet A. 2011 Nov;155A(11):2871-8. doi: 10.1002/ajmg.a.34286. Epub 2011 Oct 12.

Vijayakumar K, Gunny R, Grunewald S, Carr L, Chong KW, DeVile C, Robinson R, McSweeney N, Prabhakar P.

Pediatr Neurol. 2011 Oct;45(4):246-52. doi: 10.1016/j.pediatrneurol.2011.06.006.

Jinnou H, Okanishi T, Enoki H, Ohki S.

Brain Dev. 2012 May;34(5):392-5. doi: 10.1016/j.braindev.2011.07.011. Epub 2011 Aug 30.

Biancheri R, Bruno C, Cassandrini D, Bertini E, Santorelli FM, Rossi A.

J Inherit Metab Dis. 2011 Dec;34(6):1225-7. doi: 10.1007/s10545-011-9376-7. Epub 2011 Aug 9.

Rudaks LI, Moore L, Shand KL, Wilkinson C, Barnett CP.

Pediatr Neurol. 2011 Sep;45(3):185-8. doi: 10.1016/j.pediatrneurol.2011.05.009.

Namavar Y, Barth PG, Poll-The BT, Baas F.

Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50. Review.

Anderson C, Davies JH, Lamont L, Foulds N.

Am J Med Genet A. 2011 Apr;155A(4):667-72. doi: 10.1002/ajmg.a.33897. Epub 2011 Mar 15.

Simonati A, Cassandrini D, Bazan D, Santorelli FM.

Acta Neuropathol. 2011 May;121(5):671-3. doi: 10.1007/s00401-011-0823-1. Epub 2011 Apr 6. No abstract available.

Scott O, Goez HR.

J Child Neurol. 2011 Oct;26(10):1311-5. doi: 10.1177/0883073811402202. Epub 2011 Apr 4.

Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY.

J Child Neurol. 2011 Mar;26(3):288-94. doi: 10.1177/0883073810380047. Review.

Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F.

Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2.