Literature DB >> 8214353

Familial periventricular nodular heterotopia.

K Kamuro1, Y Tenokuchi.   

Abstract

We describe herein a 13-year-old girl, her 34-year-old mother and her 60-year-old grandmother who have periventricular heterotopic nodules. The mother has suffered from epileptic seizures since she was 15 years old, but the daughter and grandmother have had no epilepsy. They showed multiple uncalcified nodules on the lateral ventricular walls on CT. On MRI the intensity of the nodules was the same as that of the cerebral gray matter, suggesting heterotopia, and no other cerebral abnormalities were observed. Despite extensive examinations, neither have exhibited evidence of tuberous sclerosis. The periventricular nodular heterotopia observed in this family are a unique form of migration disorders, which may be caused by a dominant mutation.

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Year:  1993        PMID: 8214353     DOI: 10.1016/0387-7604(93)90073-h

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  8 in total

1.  Grey matter heterotopia: an unusual association of intractable epilepsy.

Authors:  D B Stafford Johnson; P Brennan; A J Dwyer; J Toland
Journal:  Ir J Med Sci       Date:  1997 Jul-Sep       Impact factor: 1.568

2.  Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.

Authors:  J M Fink; W B Dobyns; R Guerrini; B A Hirsch
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

Review 3.  Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis.

Authors:  P E Jardine; M A Clarke; M Super
Journal:  Arch Dis Child       Date:  1996-03       Impact factor: 3.791

4.  De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Authors:  Charuta Gavankar Furey; Jungmin Choi; Sheng Chih Jin; Xue Zeng; Andrew T Timberlake; Carol Nelson-Williams; M Shahid Mansuri; Qiongshi Lu; Daniel Duran; Shreyas Panchagnula; August Allocco; Jason K Karimy; Arjun Khanna; Jonathan R Gaillard; Tyrone DeSpenza; Prince Antwi; Erin Loring; William E Butler; Edward R Smith; Benjamin C Warf; Jennifer M Strahle; David D Limbrick; Phillip B Storm; Gregory Heuer; Eric M Jackson; Bermans J Iskandar; James M Johnston; Irina Tikhonova; Christopher Castaldi; Francesc López-Giráldez; Robert D Bjornson; James R Knight; Kaya Bilguvar; Shrikant Mane; Seth L Alper; Shozeb Haider; Bulent Guclu; Yasar Bayri; Yener Sahin; Michael L J Apuzzo; Charles C Duncan; Michael L DiLuna; Murat Günel; Richard P Lifton; Kristopher T Kahle
Journal:  Neuron       Date:  2018-07-05       Impact factor: 17.173

5.  Diffusion tensor imaging of heterotopia: changes of fractional anisotropy during radial migration of neurons.

Authors:  Seung-Koo Lee; Jinna Kim
Journal:  Yonsei Med J       Date:  2010-07       Impact factor: 2.759

6.  Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.

Authors:  Umut Gerlevik; Ceren Saygı; Hakan Cangül; Aslı Kutlu; Erdal Fırat Çaralan; Yasemin Topçu; Nesrin Özören; Osman Uğur Sezerman
Journal:  PLoS One       Date:  2022-05-25       Impact factor: 3.752

7.  Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.

Authors:  Russell J Ferland; Luis Federico Batiz; Jason Neal; Gewei Lian; Elizabeth Bundock; Jie Lu; Yi-Chun Hsiao; Rachel Diamond; Davide Mei; Alison H Banham; Philip J Brown; Charles R Vanderburg; Jeffrey Joseph; Jonathan L Hecht; Rebecca Folkerth; Renzo Guerrini; Christopher A Walsh; Esteban M Rodriguez; Volney L Sheen
Journal:  Hum Mol Genet       Date:  2008-11-07       Impact factor: 6.150

8.  Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

Authors:  J M Pinard; J Motte; C Chiron; R Brian; E Andermann; O Dulac
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-08       Impact factor: 10.154

  8 in total

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