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    Results: 1 to 20 of 161

    1.

    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

    Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT.

    Brain. 2013 Feb;136(Pt 2):536-48. doi: 10.1093/brain/aws338. Epub 2013 Jan 29.

    PMID:
    23361065
    [PubMed - indexed for MEDLINE]
    2.

    Recognizable phenotypes associated with intracranial calcification.

    Livingston JH, Stivaros S, van der Knaap MS, Crow YJ.

    Dev Med Child Neurol. 2013 Jan;55(1):46-57. doi: 10.1111/j.1469-8749.2012.04437.x. Epub 2012 Nov 1.

    PMID:
    23121296
    [PubMed - indexed for MEDLINE]
    3.

    Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin.

    Shue EH, Soares B, Courtier J, Hogue J, Shimotake T, MacKenzie TC.

    J Pediatr Surg. 2012 Oct;47(10):1938-42. doi: 10.1016/j.jpedsurg.2012.08.021.

    PMID:
    23084212
    [PubMed - indexed for MEDLINE]
    4.

    An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

    Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC.

    Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21.

    PMID:
    23001566
    [PubMed - indexed for MEDLINE]
    5.

    Intracranial evaluation of the epileptogenic zone in regional infrasylvian polymicrogyria.

    Ramantani G, Koessler L, Colnat-Coulbois S, Vignal JP, Isnard J, Catenoix H, Jonas J, Zentner J, Schulze-Bonhage A, Maillard LG.

    Epilepsia. 2013 Feb;54(2):296-304. doi: 10.1111/j.1528-1167.2012.03667.x. Epub 2012 Sep 18.

    PMID:
    22988886
    [PubMed - indexed for MEDLINE]
    6.

    Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?

    Chung B, Hinek A, Keating S, Weksberg R, Shah V, Blaser S, Hawkins C, Chitayat D.

    Am J Med Genet A. 2012 Oct;158A(10):2373-81. doi: 10.1002/ajmg.a.35570. Epub 2012 Sep 10.

    PMID:
    22965799
    [PubMed - indexed for MEDLINE]
    7.

    RTTN mutations link primary cilia function to organization of the human cerebral cortex.

    Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM.

    Am J Hum Genet. 2012 Sep 7;91(3):533-40. doi: 10.1016/j.ajhg.2012.07.008. Epub 2012 Aug 30.

    PMID:
    22939636
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.

    Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns WB, Guerrini R.

    Neurology. 2012 Sep 18;79(12):1244-51. doi: 10.1212/WNL.0b013e31826aac88. Epub 2012 Aug 22.

    PMID:
    22914838
    [PubMed - indexed for MEDLINE]
    9.

    Aicardi syndrome.

    Singh P, Goraya JS, Saggar K, Ahluwalia A.

    Singapore Med J. 2012 Jul;53(7):e153-5.

    PMID:
    22815034
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence.

    Rathod SB, Baheti AD, Dabhade PT, Sankhe SS.

    Magn Reson Med Sci. 2012;11(2):137-40.

    PMID:
    22790300
    [PubMed - indexed for MEDLINE]
    Free Article
    11.

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

    Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB.

    Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.

    PMID:
    22729224
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Complete remission of seizures after corpus callosotomy.

    Iwasaki M, Uematsu M, Sato Y, Nakayama T, Haginoya K, Osawa S, Itabashi H, Jin K, Nakasato N, Tominaga T.

    J Neurosurg Pediatr. 2012 Jul;10(1):7-13. doi: 10.3171/2012.3.PEDS11544. Epub 2012 Jun 8.

    PMID:
    22681320
    [PubMed - indexed for MEDLINE]
    13.

    A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

    Romaniello R, Tonelli A, Arrigoni F, Baschirotto C, Triulzi F, Bresolin N, Bassi MT, Borgatti R.

    Dev Med Child Neurol. 2012 Aug;54(8):765-9. doi: 10.1111/j.1469-8749.2012.04316.x. Epub 2012 May 16.

    PMID:
    22591407
    [PubMed - indexed for MEDLINE]
    14.

    Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

    Oegema R, Maat-Kievit A, Lequin MH, Schot R, Nanninga-van den Neste VM, Doornbos ME, de Wit MC, Halley DJ, Mancini GM.

    Am J Med Genet A. 2012 Jun;158A(6):1472-6. doi: 10.1002/ajmg.a.35365. Epub 2012 May 14.

    PMID:
    22585566
    [PubMed - indexed for MEDLINE]
    15.

    GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

    Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium, Triggs-Raine B, Zelinski T.

    Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

    PMID:
    22578326
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Malformations of cortical development and epilepsy in adult patients.

    Papayannis CE, Consalvo D, Kauffman MA, Seifer G, Oddo S, D'Alessio L, Saidon P, Kochen S.

    Seizure. 2012 Jun;21(5):377-84. doi: 10.1016/j.seizure.2012.03.009. Epub 2012 Apr 16.

    PMID:
    22513002
    [PubMed - indexed for MEDLINE]
    17.

    Sulthiame add-on therapy in children with focal epilepsies associated with encephalopathy related to electrical status epilepticus during slow sleep (ESES).

    Fejerman N, Caraballo R, Cersósimo R, Ferraro SM, Galicchio S, Amartino H.

    Epilepsia. 2012 Jul;53(7):1156-61. doi: 10.1111/j.1528-1167.2012.03458.x. Epub 2012 Apr 17.

    PMID:
    22509732
    [PubMed - indexed for MEDLINE]
    18.

    Malformations of cortical development: diagnostic accuracy of fetal MR imaging.

    Glenn OA, Cuneo AA, Barkovich AJ, Hashemi Z, Bartha AI, Xu D.

    Radiology. 2012 Jun;263(3):843-55. doi: 10.1148/radiol.12102492. Epub 2012 Apr 10.

    PMID:
    22495681
    [PubMed - indexed for MEDLINE]
    19.

    Electroclinical overlap of two types of epileptic encephalopathy occurring in the same children in a certain age period?

    Caraballo RH, Soraru A, Cersósimo RO.

    Epilepsy Res. 2012 Aug;101(1-2):185-90. doi: 10.1016/j.eplepsyres.2012.03.008. Epub 2012 Apr 5.

    PMID:
    22483538
    [PubMed - indexed for MEDLINE]
    20.

    A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

    Okumura A, Lee T, Ikeno M, Shimojima K, Kajino K, Inoue Y, Yoshikawa N, Suganuma H, Suzuki M, Hisata K, Shoji H, Takanashi J, Barkovich AJ, Shimizu T, Yamamoto T, Hayashi M.

    Brain Dev. 2012 Nov;34(10):881-5. doi: 10.1016/j.braindev.2012.03.003. Epub 2012 Apr 7.

    PMID:
    22483529
    [PubMed - indexed for MEDLINE]

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