A novel syndrome of lethal familial hyperekplexia associated with brain malformation

BACKGROUND: 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 (glabell...

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Main Authors: Seidahmed, Mohammed Zein, Salih, Mustafa A, Abdulbasit, Omer B, Shaheed, Meeralebbae, Al Hussein, Khalid, Miqdad, Abeer M, Al Rasheed, Abdullah K, Alazami, Anas M, Alorainy, Ibrahim A, Alkuraya, Fowzan S
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3488335/
https://ncbi.nlm.nih.gov/pubmed/23101555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-12-125
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