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6. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. Masruha MR; Caboclo LO; Carrete H; Cendes IL; Rodrigues MG; Garzon E; Yacubian EM; Sakamoto AC; Sheen V; Harney M; Neal J; Hill RS; Bodell A; Walsh C; Vilanova LC Epilepsia; 2006 Jan; 47(1):211-4. PubMed ID: 16417552 [TBL] [Abstract][Full Text] [Related]
7. Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Dobyns WB; Guerrini R; Czapansky-Beilman DK; Pierpont ME; Breningstall G; Yock DH; Bonanni P; Truwit CL Neurology; 1997 Oct; 49(4):1042-7. PubMed ID: 9339687 [TBL] [Abstract][Full Text] [Related]
8. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. Hehr U; Hehr A; Uyanik G; Phelan E; Winkler J; Reardon W J Med Genet; 2006 Jun; 43(6):541-4. PubMed ID: 16299064 [TBL] [Abstract][Full Text] [Related]
9. Autosomal recessive form of periventricular heterotopia. Sheen VL; Topçu M; Berkovic S; Yalnizoglu D; Blatt I; Bodell A; Hill RS; Ganesh VS; Cherry TJ; Shugart YY; Walsh CA Neurology; 2003 Apr; 60(7):1108-12. PubMed ID: 12682315 [TBL] [Abstract][Full Text] [Related]
10. Filamin a, periventricular nodular heterotopia, and West syndrome. Robertson SP Epilepsia; 2006 Jun; 47(6):1082; author reply 1082-3. PubMed ID: 16822260 [No Abstract] [Full Text] [Related]
11. 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. PubMed ID: 16684786 [TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 22366253 [TBL] [Abstract][Full Text] [Related]
13. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Sheen VL; Dixon PH; Fox JW; Hong SE; Kinton L; Sisodiya SM; Duncan JS; Dubeau F; Scheffer IE; Schachter SC; Wilner A; Henchy R; Crino P; Kamuro K; DiMario F; Berg M; Kuzniecky R; Cole AJ; Bromfield E; Biber M; Schomer D; Wheless J; Silver K; Mochida GH; Berkovic SF; Andermann F; Andermann E; Dobyns WB; Wood NW; Walsh CA Hum Mol Genet; 2001 Aug; 10(17):1775-83. PubMed ID: 11532987 [TBL] [Abstract][Full Text] [Related]
14. Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. Mandelstam SA; Leventer RJ; Sandow A; McGillivray G; van Kogelenberg M; Guerrini R; Robertson S; Berkovic SF; Jackson GD; Scheffer IE AJNR Am J Neuroradiol; 2013 Feb; 34(2):432-8. PubMed ID: 23348762 [TBL] [Abstract][Full Text] [Related]
15. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. Gómez-Garre P; Seijo M; Gutiérrez-Delicado E; Castro del Río M; de la Torre C; Gómez-Abad C; Morales-Corraliza J; Puig M; Serratosa JM J Med Genet; 2006 Mar; 43(3):232-7. PubMed ID: 15994863 [TBL] [Abstract][Full Text] [Related]
17. Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. Kakita A; Hayashi S; Moro F; Guerrini R; Ozawa T; Ono K; Kameyama S; Walsh CA; Takahashi H Acta Neuropathol; 2002 Dec; 104(6):649-57. PubMed ID: 12410386 [TBL] [Abstract][Full Text] [Related]
18. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Moro F; Carrozzo R; Veggiotti P; Tortorella G; Toniolo D; Volzone A; Guerrini R Neurology; 2002 Mar; 58(6):916-21. PubMed ID: 11914408 [TBL] [Abstract][Full Text] [Related]
19. 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; Epilepsy Behav; 2015 Oct; 51():321-7. PubMed ID: 26340046 [TBL] [Abstract][Full Text] [Related]
20. Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations. Liu W; Yan B; An D; Xiao J; Hu F; Zhou D Epilepsy Res; 2017 Jul; 133():33-40. PubMed ID: 28411558 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]