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Items: 1 to 20 of 120

1.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R.

Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10.

PMID:
19073947
2.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R.

Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20.

PMID:
24056535
3.

Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.

Fallil Z, Pardoe H, Bachman R, Cunningham B, Parulkar I, Shain C, Poduri A, Knowlton R, Kuzniecky R; EPGP Investigators.

Epilepsy Behav. 2015 Oct;51:321-7. doi: 10.1016/j.yebeh.2015.07.041. Epub 2015 Sep 2.

4.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PMID:
16684786
5.

Periventricular heterotopia associated with chromosome 5p anomalies.

Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH.

Neurology. 2003 Mar 25;60(6):1033-6.

PMID:
12654978
6.

Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.

Abe Y, Kikuchi A, Kobayashi S, Wakusawa K, Tanaka S, Inui T, Kunishima S, Kure S, Haginoya K.

Dev Med Child Neurol. 2014 Dec;56(12):1221-1224. doi: 10.1111/dmcn.12553. Epub 2014 Jul 23.

7.

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Fergelot P, Coupry I, Rooryck C, Deforges J, Maurat E, Solé G, Boute O, Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, Goizet C.

Eur J Med Genet. 2012 May;55(5):313-8. doi: 10.1016/j.ejmg.2012.01.018. Epub 2012 Feb 8.

PMID:
22366253
8.

Bilateral periventricular nodular heterotopia with megalencephaly: a case report.

Abe Y, Kobayashi S, Wakusawa K, Tanaka S, Inui T, Yamamoto T, Kunishima S, Haginoya K.

J Child Neurol. 2014 Jun;29(6):818-22. doi: 10.1177/0883073813478169. Epub 2013 Feb 25.

PMID:
23439715
9.

Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation.

Bardón-Cancho EJ, Muñoz-Jiménez L, Vázquez-López M, Ruíz-Martín Y, García-Morín M, Barredo-Valderrama E.

Pediatr Neurol. 2014 Sep;51(3):461-4. doi: 10.1016/j.pediatrneurol.2014.05.008. Epub 2014 May 15.

PMID:
25160555
10.

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.

Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y.

Am J Med Genet A. 2008 Nov 15;146A(22):2891-7. doi: 10.1002/ajmg.a.32556.

PMID:
18925681
11.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A.

Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27.

12.

Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia.

Verrotti A, Monacelli D, Castagnino M, Villa MP, Parisi P.

Seizure. 2014 Nov;23(10):819-24. doi: 10.1016/j.seizure.2014.07.014. Epub 2014 Jul 30. Review.

13.

Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.

Tsuburaya R, Uematsu M, Kikuchi A, Hino-Fukuyo N, Kunishima S, Kato M, Haginoya K, Tsuchiya S.

Am J Med Genet A. 2012 Mar;158A(3):674-7. doi: 10.1002/ajmg.a.34258. Epub 2012 Feb 7.

PMID:
22315185
14.

Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.

Descartes M, Mikhail FM, Franklin JC, McGrath TM, Bebin M.

Pediatr Neurol. 2011 Oct;45(4):274-8. doi: 10.1016/j.pediatrneurol.2011.06.002.

PMID:
21907895
15.

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

So J, Stockley T, Stavropoulos DJ.

Am J Med Genet A. 2014 Feb;164A(2):511-5. doi: 10.1002/ajmg.a.36292. Epub 2013 Dec 5.

PMID:
24311471
16.

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R.

J Med Genet. 2015 Jun;52(6):405-12. doi: 10.1136/jmedgenet-2014-102959. Epub 2015 Mar 9.

PMID:
25755106
17.

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.

J Med Genet. 2010 Feb;47(2):132-6. doi: 10.1136/jmg.2009.069112. Epub 2009 Jul 26.

PMID:
19635726
18.

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Cornelia Kraus, Ekici AB, Reis A, Rauch A.

Hum Mutat. 2010 Jun;31(6):722-33. doi: 10.1002/humu.21253.

PMID:
20513142
19.

Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.

McCann MV, Pongonis SJ, Golomb MR, Edwards-Brown M, Christensen CK, Sokol DK.

J Child Neurol. 2008 Aug;23(8):950-3. doi: 10.1177/0883073808315415.

PMID:
18660478
20.

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