Abstract | BACKGROUND: PATIENT: We present an 18-month-old boy with global developmental delay and multiple episodes of loss of tone after auditory cues. RESULTS: CONCLUSIONS: The IL1RAPL1 gene is located on Xp21.2-p21.3 and codes a synaptic adhesion protein involved in neuronal differentiation and synapse localization, stabilization, and maturation. The coexistence of startle epilepsy and IL1RAPL1 gene deletion in this child may not be coincidental and suggests a possible involvement of IL1RAPL1 in the dysregulation of excitatory synapses and the pathogenesis of startle epilepsy.
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Authors | Argiris Dinopoulos, Maria-Ioanna Stefanou, Achilleas Attilakos, Maria Tsirouda, Vassiliki Papaevangelou |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 51
Issue 2
Pg. 271-4
(Aug 2014)
ISSN: 1873-5150 [Electronic] United States |
PMID | 24950661
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2014 Elsevier Inc. All rights reserved. |
Chemical References |
- IL1RAPL1 protein, human
- Interleukin-1 Receptor Accessory Protein
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Topics |
- Developmental Disabilities
(genetics)
- Epilepsy, Reflex
(genetics)
- Gene Deletion
- Humans
- Infant
- Interleukin-1 Receptor Accessory Protein
(genetics)
- Male
- Reflex, Startle
- Syncope
(genetics)
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