Open Access Highly Accessed Research article

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

Mohammed Zein Seidahmed1, Mustafa A Salih2*, Omer B Abdulbasit1, Meeralebbae Shaheed1, Khalid Al Hussein1, Abeer M Miqdad1, Abdullah K Al Rasheed3, Anas M Alazami4, Ibrahim A Alorainy5 and Fowzan S Alkuraya467

Author Affiliations

1 Neonatology Unit, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia

2 Division of Pediatric Neurology, Department of Pediatrics (39), College of Medicine, King Saud University, P. O. Box 2925, Riyadh, 11461, Saudi Arabia

3 Division of Pediatric Neurology, Department of Pediatrics Security Forces Hospital, Riyadh, Saudi Arabia

4 Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research left, Riyadh, Saudi Arabia

5 Department of Radiology and Diagnostic Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia

6 Division of Genetics, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia

7 Department of Anatomy and Cell Biology, College of Medicine, Al Faisal University, Riyadh, Saudi Arabia

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BMC Neurology 2012, 12:125  doi:10.1186/1471-2377-12-125

Published: 27 October 2012

Additional files

Additional file 1:

MOV (QuickTime) showing non-habituating glabellar tap in Patient 1 (Figure 1, IV.1).

Format: ZIP Size: 9.8MB Download file

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Additional file 2:

MOV (QuickTime) shows exaggerated startle reflex to sounds in Patient 1 (Figure 1, IV.1).

Format: ZIP Size: 9.9MB Download file

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Additional file 3:

MOV (QuickTime) showing abnormal tactile response with jittery movements that became rhythmic and mimicked seizures in Patient 2 (Figure 1, IV.3).

Format: ZIP Size: 8.9MB Download file

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