Literature DB >> 2496695

Startle disease or hyperekplexia: adolescent onset and response to valproate.

J M Dooley1, F Andermann.   

Abstract

We report a boy with rigidity and hyperekplexia or startle disease which began in adolescence. His symptoms completely resolved with valproic acid therapy. Two relatives have the minor form of this disorder, suggesting autosomal dominant inheritance with variable penetrance.

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Year:  1989        PMID： 2496695     DOI： 10.1016/0887-8994(89)90041-6

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  6 in total

1.  The effect of levetiracetam in startle disease.

Authors:  Gerhard J Luef; Wolfgang N Löscher
Journal:  J Neurol       Date:  2007-04-02       Impact factor: 4.849

Review 2.  Myoclonus and epilepsies.

Authors:  N Fejerman
Journal:  Indian J Pediatr       Date:  1997 Sep-Oct       Impact factor: 1.967

3.  Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

Authors:  S G Ryan; M J Dixon; M A Nigro; K A Kelts; O N Markand; J C Terry; R Shiang; J J Wasmuth; P O'Connell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

4.  Hyperekplexia and stiff-baby syndrome: an identical neurological disorder?

Authors:  G Cioni; E Biagioni; P Bottai; A M Castellacci; P B Paolicelli
Journal:  Ital J Neurol Sci       Date:  1993-03

5.  Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease.

Authors:  L Becker; B Hartenstein; J Schenkel; J Kuhse; H Betz; H Weiher
Journal:  Eur J Neurosci       Date:  2000-01       Impact factor: 3.386

Review 6.  Synaptopathies: synaptic dysfunction in neurological disorders - A review from students to students.

Authors:  Katarzyna Lepeta; Mychael V Lourenco; Barbara C Schweitzer; Pamela V Martino Adami; Priyanjalee Banerjee; Silvina Catuara-Solarz; Mario de La Fuente Revenga; Alain Marc Guillem; Mouna Haidar; Omamuyovwi M Ijomone; Bettina Nadorp; Lin Qi; Nirma D Perera; Louise K Refsgaard; Kimberley M Reid; Mariam Sabbar; Arghyadip Sahoo; Natascha Schaefer; Rebecca K Sheean; Anna Suska; Rajkumar Verma; Cinzia Vicidomini; Dean Wright; Xing-Ding Zhang; Constanze Seidenbecher
Journal:  J Neurochem       Date:  2016-09-08       Impact factor: 5.372
  6 in total

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