Literature DB >> 15309192

Reelin' in Genes for Cortical Dysplasia.

Peter B. Crino1.   

Abstract

Malformations of cortical development are a broad family of disorders that are characterized by abnormal cytoarchitecture of the cerebral cortex and a high association with epilepsy. In recent years positional cloning strategies have been implemented to identify several distinct gene mutations that are responsible for developmental brain malformations. The defined functional roles of proteins encoded by these genes have provided pivotal insights into the cellular mechanisms of brain development. Identification of these genes provides important clinical information used in genetic counseling for patients and their families.

Entities:  

Year:  2001        PMID: 15309192      PMCID: PMC320819          DOI: 10.1046/j.1535-7597.2001.00014.x

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


  41 in total

Review 1.  Genetic malformations of the human cerebral cortex.

Authors:  C A Walsh
Journal:  Neuron       Date:  1999-05       Impact factor: 17.173

2.  The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho.

Authors:  R F Lamb; C Roy; T J Diefenbach; H V Vinters; M W Johnson; D G Jay; A Hall
Journal:  Nat Cell Biol       Date:  2000-05       Impact factor: 28.824

Review 3.  Constructing the cerebral cortex: neurogenesis and fate determination.

Authors:  S K McConnell
Journal:  Neuron       Date:  1995-10       Impact factor: 17.173

4.  Gray matter heterotopia.

Authors:  A J Barkovich; R I Kuzniecky
Journal:  Neurology       Date:  2000-12-12       Impact factor: 9.910

5.  Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly.

Authors:  M W Fleck; S Hirotsune; M J Gambello; E Phillips-Tansey; G Suares; R F Mervis; A Wynshaw-Boris; C J McBain
Journal:  J Neurosci       Date:  2000-04-01       Impact factor: 6.167

6.  Characterization of nodular neuronal heterotopia in children.

Authors:  A J Hannan; S Servotte; A Katsnelson; S Sisodiya; C Blakemore; M Squier; Z Molnár
Journal:  Brain       Date:  1999-02       Impact factor: 13.501

Review 7.  X-linked malformations of cortical development.

Authors:  R J Leventer; P L Mills; W B Dobyns
Journal:  Am J Med Genet       Date:  2000

8.  Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Authors:  J W Fox; E D Lamperti; Y Z Ekşioğlu; S E Hong; Y Feng; D A Graham; I E Scheffer; W B Dobyns; B A Hirsch; R A Radtke; S F Berkovic; P R Huttenlocher; C A Walsh
Journal:  Neuron       Date:  1998-12       Impact factor: 17.173

9.  Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

Authors:  O Reiner; R Carrozzo; Y Shen; M Wehnert; F Faustinella; W B Dobyns; C T Caskey; D H Ledbetter
Journal:  Nature       Date:  1993-08-19       Impact factor: 49.962

10.  Surgical treatment of epilepsy in tuberous sclerosis: strategies and results in 18 patients.

Authors:  M M Guerreiro; F Andermann; E Andermann; A Palmini; P Hwang; H J Hoffman; H Otsubo; A Bastos; F Dubeau; G J Snipes; A Olivier; T Rasmussen
Journal:  Neurology       Date:  1998-11       Impact factor: 9.910

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