HYPEREKPLEXIA, HYPERTONIA AND HYPE

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AKHOUNDIAN J.; JAFAR ZADEH MOHSEN

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Journal Paper

Paper Information

Journal: Medical Journal of Mashhad University of Medical Sciences Year:2000 | Volume:43 | Issue:68 Page(s): 109-112

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Information Journal Paper

Title

HYPEREKPLEXIA, HYPERTONIA AND HYPE"EJLEXIA IN ONE NEONATE

Author(s)

AKHOUNDIAN J. | JAFAR ZADEH MOHSEN | Issue Writer Certificate

Keywords

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Abstract

We present an infant girl with hyperekplexia, hypertonia, hyperreflexia and a characteristic exaggerated response to nose tap.The genetic basis of recessively inherited and sporadic cases of hyperekplexia is unknown. Familial cases of hyperekplexia appear to be due to mutations in the glycine receptor. This disorder is important to recognize because of the increase risk of apnea and sudden infant death. Most of these infants respond to clonozepam.

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APA: Copy

AKHOUNDIAN, J., & JAFAR ZADEH, MOHSEN. (2000). HYPEREKPLEXIA, HYPERTONIA AND HYPE"EJLEXIA IN ONE NEONATE. MEDICAL JOURNAL OF MASHHAD UNIVERSITY OF MEDICAL SCIENCES, 43(68), 109-112. SID. https://sid.ir/paper/51922/en

Vancouver: Copy

AKHOUNDIAN J., JAFAR ZADEH MOHSEN. HYPEREKPLEXIA, HYPERTONIA AND HYPE"EJLEXIA IN ONE NEONATE. MEDICAL JOURNAL OF MASHHAD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2000;43(68):109-112. Available from: https://sid.ir/paper/51922/en

IEEE: Copy

J. AKHOUNDIAN, and MOHSEN JAFAR ZADEH, “HYPEREKPLEXIA, HYPERTONIA AND HYPE"EJLEXIA IN ONE NEONATE,” MEDICAL JOURNAL OF MASHHAD UNIVERSITY OF MEDICAL SCIENCES, vol. 43, no. 68, pp. 109–112, 2000, [Online]. Available: https://sid.ir/paper/51922/en

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