A novel syndrome of lethal familial hyperekplexia associated with brain malformation

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

doi:10.1186/1471-2377-12-125

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A novel syndrome of lethal familial hyperekplexia associated with brain malformation

Journal article

Open access

Peer reviewed

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

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 and Fowzan S Alkuraya

BMC neurology, Vol.12(1), pp.125-125

27/10/2012

DOI: https://doi.org/10.1186/1471-2377-12-125

PMCID: PMC3488335

PMID: 23101555

Abstract

Autosomal recessive

Cerebellar underdevelopment

Hyperekplexia

Microcephaly

Simplified gyral pattern

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Title: A novel syndrome of lethal familial hyperekplexia associated with brain malformation
Creators - without role: Mohammed Zein Seidahmed - Security Forces Hospital
Mustafa A Salih - King Saud University
Omer B Abdulbasit - Security Forces Hospital
Meeralebbae Shaheed - Security Forces Hospital
Khalid Al Hussein - King Khalid University Hospital
Abeer M Miqdad - Security Forces Hospital
Abdullah K Al Rasheed - Security Forces Hospital
Anas M Alazami - King Faisal Specialist Hospital & Research Centre
Ibrahim A Alorainy - King Saud University
Fowzan S Alkuraya - Alfaisal University
Publication Details: BMC neurology, Vol.12(1), pp.125-125
Publisher: BioMed Central
Identifiers: 9948295908331
Academic Unit: King Saud University
Language: English
Resource Type: Journal article