Literature DB >> 29200978

Case 1: A term infant with apnea and stiffening.

Monica S Arroyo1, Ting Ting Fu2, Robert B Hufnagel3.   

Abstract

Entities:  

Year:  2017        PMID： 29200978      PMCID： PMC5708563          DOI： 10.1542/neo.18-11-e665

Source DB:  PubMed          Journal:  Neoreviews        ISSN： 1526-9906


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  7 in total

1.  Clobazam-clonazepam combination effective for stimulus-induced falling in hyperekplexia.

Authors:  Gary N McAbee
Journal:  J Child Neurol       Date:  2014-01-21       Impact factor: 1.987

2.  Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome.

Authors:  J A Morrow; I T Collie; D R Dunbar; G B Walker; M Shahid; D R Hill
Journal:  FEBS Lett       Date:  1998-11-20       Impact factor: 4.124

Review 3.  Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory.

Authors:  Kristen Lipscomb Sund; Catherine Weaver Rehder
Journal:  Hum Hered       Date:  2014-07-29       Impact factor: 0.444

4.  Successful treatment of severe infantile hyperekplexia with low-dose clobazam.

Authors:  Wendy A Stewart; Ellen P Wood; Kevin E Gordon; Peter R Camfield
Journal:  J Child Neurol       Date:  2002-02       Impact factor: 1.987

Review 5.  Startle and its disorders.

Authors:  H-M Meinck
Journal:  Neurophysiol Clin       Date:  2007-01-26       Impact factor: 3.734

6.  Sporadic major hyperekplexia in neonates and infants: clinical manifestations and outcome.

Authors:  Eli Shahar; Ravit Raviv
Journal:  Pediatr Neurol       Date:  2004-07       Impact factor: 3.372

7.  Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.

Authors:  Rhys H Thomas; Seo-Kyung Chung; Sian E Wood; Thomas D Cushion; Cheney J G Drew; Carrie L Hammond; Jean-Francois Vanbellinghen; Jonathan G L Mullins; Mark I Rees
Journal:  Brain       Date:  2013-09-11       Impact factor: 13.501
  7 in total

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