Literature DB >> 18839028

Fragile X syndrome and epilepsy.

Li-Feng Qiu1, Yan-Hong Hao, Qing-Zhang Li, Zhi-Qi Xiong.   

Abstract

Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.

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Year:  2008        PMID: 18839028      PMCID: PMC5552528          DOI: 10.1007/s12264-008-1221-0

Source DB:  PubMed          Journal:  Neurosci Bull        ISSN: 1995-8218            Impact factor:   5.203


  53 in total

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Authors:  L Chen; M Toth
Journal:  Neuroscience       Date:  2001       Impact factor: 3.590

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Authors:  G Turner; A Daniel; M Frost
Journal:  J Pediatr       Date:  1980-05       Impact factor: 4.406

5.  Epilepsy and EEG findings in males with fragile X syndrome.

Authors:  S A Musumeci; R J Hagerman; R Ferri; P Bosco; B Dalla Bernardina; C A Tassinari; G B De Sarro; M Elia
Journal:  Epilepsia       Date:  1999-08       Impact factor: 5.864

6.  Metabotropic receptor-dependent long-term depression persists in the absence of protein synthesis in the mouse model of fragile X syndrome.

Authors:  Elena D Nosyreva; Kimberly M Huber
Journal:  J Neurophysiol       Date:  2006-02-01       Impact factor: 2.714

7.  Epilepsy and EEG findings in 18 males with fragile X syndrome.

Authors:  M Sabaratnam; P G Vroegop; S K Gangadharan
Journal:  Seizure       Date:  2001-01       Impact factor: 3.184

8.  Decreased GABA(A) receptor expression in the seizure-prone fragile X mouse.

Authors:  Abdeslem El Idrissi; Xiao-Hua Ding; Jason Scalia; Ekkhart Trenkner; W Ted Brown; Carl Dobkin
Journal:  Neurosci Lett       Date:  2004-12-23       Impact factor: 3.046

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Authors:  C T Ashley; K D Wilkinson; D Reines; S T Warren
Journal:  Science       Date:  1993-10-22       Impact factor: 47.728

10.  Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor.

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Journal:  Cell       Date:  1994-11-18       Impact factor: 41.582

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  5 in total

Review 1.  The fragile X mental retardation protein in circadian rhythmicity and memory consolidation.

Authors:  Cheryl L Gatto; Kendal Broadie
Journal:  Mol Neurobiol       Date:  2009-02-12       Impact factor: 5.590

2.  A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model.

Authors:  Laetitia Davidovic; Vincent Navratil; Carmela M Bonaccorso; Maria Vincenza Catania; Barbara Bardoni; Marc-Emmanuel Dumas
Journal:  Genome Res       Date:  2011-09-07       Impact factor: 9.043

3.  Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models.

Authors:  Cheryl L Gatto; Kendal Broadie
Journal:  Front Synaptic Neurosci       Date:  2010-06-07

4.  Impaired Functional Connectivity Underlies Fragile X Syndrome.

Authors:  Lital Gildin; Rossana Rauti; Ofir Vardi; Liron Kuznitsov-Yanovsky; Ben M Maoz; Menahem Segal; Dalit Ben-Yosef
Journal:  Int J Mol Sci       Date:  2022-02-12       Impact factor: 5.923

5.  Hyperexcitability and Homeostasis in Fragile X Syndrome.

Authors:  Xiaopeng Liu; Vipendra Kumar; Nien-Pei Tsai; Benjamin D Auerbach
Journal:  Front Mol Neurosci       Date:  2022-01-06       Impact factor: 5.639

  5 in total

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