Literature DB >> 7824106

Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder.

C D Ferrie1, G D Jackson, S Giannakodimos, C P Panayiotopoulos.   

Abstract

We describe two brothers with mental retardation and refractory epilepsy. MRI revealed symmetrical agyria-pachygyria of the temporo-occipito-parietal regions, areas of deeply infolded polymicrogyric parietal cortex, and dilated occipital horns (colpocephaly). The stereotyped clinical, EEG, and MRI findings suggest that this may be a distinct inherited condition and imply that agyria-pachygyria with polymicrogyria is not always sporadic.

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Year:  1995        PMID： 7824106     DOI： 10.1212/wnl.45.1.150

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  3 in total

1.  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors:  William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

2.  Recessive LAMC3 mutations cause malformations of occipital cortical development.

Authors:  Tanyeri Barak; Kenneth Y Kwan; Angeliki Louvi; Veysi Demirbilek; Serap Saygı; Beyhan Tüysüz; Murim Choi; Hüseyin Boyacı; Katja Doerschner; Ying Zhu; Hande Kaymakçalan; Saliha Yılmaz; Mehmet Bakırcıoğlu; Ahmet Okay Cağlayan; Ali Kemal Oztürk; Katsuhito Yasuno; William J Brunken; Ergin Atalar; Cengiz Yalçınkaya; Alp Dinçer; Richard A Bronen; Shrikant Mane; Tayfun Ozçelik; Richard P Lifton; Nenad Sestan; Kaya Bilgüvar; Murat Günel
Journal:  Nat Genet       Date:  2011-05-15       Impact factor: 38.330

Review 3.  Malformations of cortical development and epilepsy.

Authors:  Richard J Leventer; Renzo Guerrini; William B Dobyns
Journal:  Dialogues Clin Neurosci       Date:  2008       Impact factor: 5.986
  3 in total

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