Literature DB >> 19394799

The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome.

Verna Louhivuori1, Maria Arvio, Pia Soronen, Virpi Oksanen, Tiina Paunio, Maija L Castrén.   

Abstract

The Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene may modulate the epilepsy phenotype. We investigated the impact of polymorphisms in the BDNF gene on clinical features in fragile X syndrome (FXS). In our study sample, the Met66 allele associated with epilepsy of finnish FXS men. Abnormalities in BDNF-mediated plasticity are shown in FXS and the present data suggest that the Met66 allele might predispose FXS males to epilepsy.

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Year:  2009        PMID: 19394799     DOI: 10.1016/j.eplepsyres.2009.01.005

Source DB:  PubMed          Journal:  Epilepsy Res        ISSN: 0920-1211            Impact factor:   3.045


  6 in total

1.  Brain derived neurotrophic factor and serotonin transporter binding as markers of clinical response to fluoxetine therapy in children with autism.

Authors:  Ismo Makkonen; Raili Riikonen; Jyrki T Kuikka; Hannu Kokki; Joseph P Bressler; Cathleen Marshall; Walter E Kaufmann
Journal:  J Pediatr Neurol       Date:  2011-03

Review 2.  Multiple approaches to investigate the transport and activity-dependent release of BDNF and their application in neurogenetic disorders.

Authors:  David Hartmann; Jana Drummond; Erik Handberg; Sharday Ewell; Lucas Pozzo-Miller
Journal:  Neural Plast       Date:  2012-06-06       Impact factor: 3.599

Review 3.  Molecular Biomarkers in Fragile X Syndrome.

Authors:  Marwa Zafarullah; Flora Tassone
Journal:  Brain Sci       Date:  2019-04-27

4.  Reconstruction and Analysis of Gene Networks of Human Neurotransmitter Systems Reveal Genes with Contentious Manifestation for Anxiety, Depression, and Intellectual Disabilities.

Authors:  Roman Ivanov; Vladimir Zamyatin; Aleksandra Klimenko; Yury Matushkin; Alexander Savostyanov; Sergey Lashin
Journal:  Genes (Basel)       Date:  2019-09-11       Impact factor: 4.096

5.  Genotype-expression interactions for BDNF across human brain regions.

Authors:  Patrick Devlin; Xueyuan Cao; Ansley Grimes Stanfill
Journal:  BMC Genomics       Date:  2021-03-23       Impact factor: 3.969

6.  Epileptic Electroencephalography Profile Associates with Attention Problems in Children with Fragile X Syndrome: Review and Case Series.

Authors:  Benjamin Cowley; Svetlana Kirjanen; Juhani Partanen; Maija L Castrén
Journal:  Front Hum Neurosci       Date:  2016-07-12       Impact factor: 3.169

  6 in total

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