hyperekplexia

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/05/31 22:03:17」(JST)

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英文文献

  • Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.
  • Hackmann K, Matko S, Gerlach EM, von der Hagen M, Klink B, Schrock E, Rump A, Di Donato N.SourceInstitut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • European journal of human genetics : EJHG.Eur J Hum Genet.2013 Jan;21(1):112-4. doi: 10.1038/ejhg.2012.97. Epub 2012 Jun 6.
  • We report about the partial de novo loss of GLRB and GRIA2 in an individual with intellectual disability (ID). No additional mutations were found in either gene. GLRB itself does not seem to be a good candidate as it causes autosomal recessive hyperekplexia and no symptoms were found in the patient.
  • PMID 22669415
  • GLRB is the third major gene of effect in hyperekplexia.
  • Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longhardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI.SourceNeurology Research and Molecular Neuroscience, Institute of Life Science and.
  • Human molecular genetics.Hum Mol Genet.2012 Dec 18. [Epub ahead of print]
  • Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption triggers a paediatric and adult startle disorder, hyperekplexia. The postsynaptic α(1)-subunit (GLRA1) of the inhibitory glycine receptor (GlyR) and the cognate presynaptic glycine transporter (SLC6A5/GlyT2)
  • PMID 23184146

和文文献

  • 臨床研究・症例報告 遺伝子解析により診断が確定した驚愕病の1例
  • 大野 真由美,富樫 篤生,須佐 史信 [他]
  • 小児科臨床 65(1), 97-100, 2012-01
  • NAID 40019087778
  • 麻痺性イレウスを呈した驚愕病の姉弟例
  • 吾郷 真子,竹谷 健,木村 正彦,安田 謙二,久守 孝司,岸 和子,瀬島 斉,山口 清次
  • 日本小児科学会雑誌 114(7), 1073-1076, 2010-07-01
  • NAID 10027695101

関連リンク

Hyperekplexia ("exaggerated surprise") is a neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia. The hypertonia may be predominantly truncal, attenuated during ...
Hereditary hyperekplexia (HPX) is characterized by generalized stiffness immediately after birth that normalizes during the first years of life; excessive startle reflex (eye blinking and a flexor spasm of the trunk) to unexpected ...

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リンク元びっくり病」「過度驚愕」「過剰驚愕症」「hyperexplexia

びっくり病」

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hyperekplexia
過剰驚愕症過度驚愕
-驚愕てんかん


過度驚愕」

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hyperekplexiahyperexplexia
過剰驚愕症びっくり病


過剰驚愕症」

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hyperekplexiahyperexplexia
過度驚愕びっくり病


hyperexplexia」

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過剰驚愕症過度驚愕

hyperekplexia




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