Title |
A novel syndrome of lethal familial hyperekplexia associated with brain malformation
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Published in |
BMC Neurology, October 2012
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DOI | 10.1186/1471-2377-12-125 |
Pubmed ID | |
Authors |
Mohammed Zein Seidahmed, Mustafa A Salih, Omer B Abdulbasit, Meeralebbae Shaheed, Khalid Al Hussein, Abeer M Miqdad, Abdullah K Al Rasheed, Anas M Alazami, Ibrahim A Alorainy, Fowzan S Alkuraya |
Abstract |
Hyperekplexia (HPX) is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, and non-habituating generalized flexor spasm in response to tapping of the nasal bridge (glabellar tap) which forms its clinical hallmark. The course of the disease is usually benign with spontaneous amelioration with age. The disorder results from aberrant glycinergic neurotransmission, and several mutations were reported in the genes encoding glycine receptor (GlyR) α1 and β subunits, glycine transporter GlyT2 as well as two other proteins involved in glycinergic neurotransmission gephyrin and collybistin. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Egypt | 1 | 25% |
Unknown | 3 | 75% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 75% |
Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 34 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 7 | 21% |
Professor > Associate Professor | 5 | 15% |
Student > Master | 4 | 12% |
Professor | 2 | 6% |
Student > Doctoral Student | 2 | 6% |
Other | 6 | 18% |
Unknown | 8 | 24% |
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Agricultural and Biological Sciences | 4 | 12% |
Social Sciences | 3 | 9% |
Psychology | 3 | 9% |
Biochemistry, Genetics and Molecular Biology | 1 | 3% |
Other | 4 | 12% |
Unknown | 7 | 21% |