Literature DB >> 3338421

Fragile-X syndrome: a particular epileptogenic EEG pattern.

S A Musumeci1, R M Colognola, R Ferri, G L Gigli, M A Petrella, S Sanfilippo, P Bergonzi, C A Tassinari.   

Abstract

A clinical and EEG study of 12 fragile-X syndrome subjects (six with epilepsy) is presented. All subjects had clinical-family history examinations, EEG evaluations, and karyotyping. Spikes were present in the sleep EEG of one nonepileptic and four epileptic subjects: these spikes were similar in location, occurrence, voltage, frequency, and morphology (and similar to those of the Rolandic spikes). These data, together with the clinical similarities (type of epilepsy, responses to drugs, ages of seizure onset, etc.), have resulted in the postulation of EEG characteristics of epileptic and nonepileptic fragile-X patients. However, further studies with fragile-X patients are needed to confirm this hypothesis.

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Year:  1988        PMID: 3338421     DOI: 10.1111/j.1528-1157.1988.tb05096.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  10 in total

Review 1.  Fragile X syndrome: the GABAergic system and circuit dysfunction.

Authors:  Scott M Paluszkiewicz; Brandon S Martin; Molly M Huntsman
Journal:  Dev Neurosci       Date:  2011-09-21       Impact factor: 2.984

2.  The specificity of the characteristic sleep EEG pattern in the fragile-X syndrome.

Authors:  S A Musumeci; R Ferri; P Bergonzi
Journal:  J Neurol       Date:  1990-02       Impact factor: 4.849

3.  Fragile X syndrome.

Authors:  J Turk
Journal:  Arch Dis Child       Date:  1995-01       Impact factor: 3.791

4.  Clinico-neurological investigations in the fra(X) form of mental retardation.

Authors:  P Vieregge; U Froster-Iskenius
Journal:  J Neurol       Date:  1989-02       Impact factor: 4.849

Review 5.  Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome.

Authors:  Gül Dölen; Mark F Bear
Journal:  J Physiol       Date:  2008-01-17       Impact factor: 5.182

6.  Neuroanatomy in fragile X females: the posterior fossa.

Authors:  A L Reiss; L Freund; J E Tseng; P K Joshi
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

7.  A single early-life seizure results in long-term behavioral changes in the adult Fmr1 knockout mouse.

Authors:  Samantha L Hodges; Conner D Reynolds; Suzanne O Nolan; Jessica L Huebschman; James T Okoh; Matthew S Binder; Joaquin N Lugo
Journal:  Epilepsy Res       Date:  2019-08-29       Impact factor: 3.045

8.  Resilience to audiogenic seizures is associated with p-ERK1/2 dephosphorylation in the subiculum of Fmr1 knockout mice.

Authors:  Giulia Curia; Fabio Gualtieri; Regina Bartolomeo; Riccardo Vezzali; Giuseppe Biagini
Journal:  Front Cell Neurosci       Date:  2013-04-25       Impact factor: 5.505

9.  Translational Concepts of mGluR5 in Synaptic Diseases of the Brain.

Authors:  Thomas M Piers; Dong Hyun Kim; Byeong C Kim; Philip Regan; Daniel J Whitcomb; Kwangwook Cho
Journal:  Front Pharmacol       Date:  2012-11-27       Impact factor: 5.810

10.  Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Authors:  Elisabetta Tabolacci; Maria Grazia Pomponi; Laura Remondini; Roberta Pietrobono; Daniela Orteschi; Veronica Nobile; Cecilia Pucci; Elisa Musto; Marika Pane; Eugenio M Mercuri; Giovanni Neri; Maurizio Genuardi; Pietro Chiurazzi; Marcella Zollino
Journal:  Genes (Basel)       Date:  2021-11-27       Impact factor: 4.096

  10 in total

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