| 1 | BPNH, FLNA
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| Heterogeneity of platelet functional alterations in patients with filamin A mutations.
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| Berrou E, Adam F, Lebret M, Fergelot P, Kauskot A, Coupry I, Jandrot-Perrus M, Nurden A, Favier R, Rosa JP, Goizet C, Nurden P, Bryckaert M.
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| Arterioscler Thromb Vasc Biol 33(1):e11-8. doi: 10.1161/ATVBAHA.112.300603. Epub 2012 Nov 1. 2013
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| 2 | BPNH, FLNA
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| A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
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| Carabalona A, Beguin S, Pallesi-Pocachard E, Buhler E, Pellegrino C, Arnaud K, Hubert P, Oualha M, Siffroi JP, Khantane S, Coupry I, Goizet C, Gelot AB, Represa A, Cardoso C.
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| Hum Mol Genet 21(5):1004-17. Epub 2011 Nov 10.
2012
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| 3 | BPNH, FLNA
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| FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.
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| Kunishima S, Ito-Yamamura Y, Hayakawa A, Yamamoto T, Saito H.
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| J Hum Genet 55(12):844-6. Epub 2010 Sep 16.
2010
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| 4 | BPNH, FLNA
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| Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
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| Solé G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C.
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| J Neurol Neurosurg Psychiatry 80(12):1394-8.PMID: 19917821 2009
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| 5 | FLNA, BPNH
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| A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
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| Hehr U, Hehr A, Uyanik G, Phelan E, Winkler J, Reardon W.
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| J Med Genet 43(6):541-4. Epub 2005 Nov 18. 2006
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| 6 | FLNA, FMTD, BPNH
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| A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
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| Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A.
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| Am J Hum Genet 74(4):731-7. Epub 2004 Feb 25. 2004
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| 7 | BPNH, FLNA
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| Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
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| Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Kramer G, Moro F, Dobyns WB, Parrini E.
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| Neurology 63(1):51-6. 2004
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| 8 | BPNH, FLNA, FMTD, MLNS , OPD1, OPD2
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| Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
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| Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group.
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| Nat Genet 33(4):487-91. 2003
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| 9 | BPNH, FLNA
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| Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
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| 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.
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| Hum Mol Genet 10(17):1775-83. 2001
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| 10 | FLNA, BPNH
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| Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.
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| Fox JW, et al.
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| Am J Hum Genet 65(1):19-24. Review. No abstract available 1999
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| 11 | FLNA, BPNH
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| Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
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| Fox JW, et al.
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| Neuron 21(6):1315-25. 1998
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| 12 | BPNH
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| Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
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| Fink JM, Dobyns WB, Guerrini R, Hirsch BA.
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| Am J Hum Genet 61(2):379-87. 1997
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| 13 | BPNH
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| Periventricular heterotopia : an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.
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| Eksioglu YZ, et al.
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| Neuron 16 : 77-87. 1996
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