Two new familial severe infantile spasm syndromes in males.
Publication
, Journal Article
Karam, PE; Farra, C; Shamseddine, A; Mikati, MA
Published in: Epilepsy Behav
April 2009
We describe two new familial severe infantile spasm syndromes (ISSs) unrelated to Aristaless-related homeobox (ARX) gene mutation. Family A contains two male siblings each with dysmorphism, profound psychomotor delay, gastroesophageal reflux, infantile spasms, hypsarrhythmia, prominent independent central apneas, and early death. Family B contains two male siblings with dysmorphism, profound psychomotor delay, ambiguous genitalia, macular hypoplasia, neurosensory hearing deficit, gastroesophageal reflux, infantile spasms, no hypsarrhythmia, apneas, and early death in one sibling. Etiologic workup and ARX gene sequencing were negative. This indicates that several familial ISSs exist but are not genetically characterized.
Duke Scholars
Published In
Epilepsy Behav
DOI
EISSN
1525-5069
Publication Date
April 2009
Volume
14
Issue
4
Start / End Page
696 / 700
Location
United States
Related Subject Headings
- Spasms, Infantile
- Neurology & Neurosurgery
- Male
- Magnetic Resonance Imaging
- Infant
- Humans
- Family Health
- Electroencephalography
- 5203 Clinical and health psychology
- 5202 Biological psychology
Citation
APA
Chicago
ICMJE
MLA
NLM
Karam, P. E., Farra, C., Shamseddine, A., & Mikati, M. A. (2009). Two new familial severe infantile spasm syndromes in males. Epilepsy Behav, 14(4), 696–700. https://doi.org/10.1016/j.yebeh.2009.02.011
Karam, Pascale E., Chantal Farra, Alhan Shamseddine, and Mohamad A. Mikati. “Two new familial severe infantile spasm syndromes in males.” Epilepsy Behav 14, no. 4 (April 2009): 696–700. https://doi.org/10.1016/j.yebeh.2009.02.011.
Karam PE, Farra C, Shamseddine A, Mikati MA. Two new familial severe infantile spasm syndromes in males. Epilepsy Behav. 2009 Apr;14(4):696–700.
Karam, Pascale E., et al. “Two new familial severe infantile spasm syndromes in males.” Epilepsy Behav, vol. 14, no. 4, Apr. 2009, pp. 696–700. Pubmed, doi:10.1016/j.yebeh.2009.02.011.
Karam PE, Farra C, Shamseddine A, Mikati MA. Two new familial severe infantile spasm syndromes in males. Epilepsy Behav. 2009 Apr;14(4):696–700.
Published In
Epilepsy Behav
DOI
EISSN
1525-5069
Publication Date
April 2009
Volume
14
Issue
4
Start / End Page
696 / 700
Location
United States
Related Subject Headings
- Spasms, Infantile
- Neurology & Neurosurgery
- Male
- Magnetic Resonance Imaging
- Infant
- Humans
- Family Health
- Electroencephalography
- 5203 Clinical and health psychology
- 5202 Biological psychology