Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance

Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance Publisher Pubmed

Kowkabi S^{1, 2} ; Yavarian M³ ; Kaboodkhani R² ; Mohammadi M¹ ; Shervin Badv R¹

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1. Child Neurology Division and Children's Epilepsy Monitoring Unit, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran
2. Shiraz University of Medical Sciences, Shiraz, Iran
3. Hematology Research Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

Source: Epilepsy and Behavior Published:2024

Abstract

PCDH19 clustering epilepsy (PCDH19-CE) is an X-linked epilepsy disorder associated with intellectual disability (ID) and behavioral disturbances, which is caused by PCDH19 gene variants. PCDH19 pathogenic variant leads to epilepsy in heterozygous females, not in hemizygous males and the inheritance pattern is unusual. The hypothesis of cellular interference was described as a key pathogenic mechanism. According to that, males do not develop the disease because of the uniform expression of PCDH19 (variant or wild type) unless they have a somatic variation. We conducted a literature review on PCDH19-CE pathophysiology and concluded that other significant mechanisms could contribute to pathogenesis including: asymmetric cell division and heterochrony, female-related allopregnanolone deficiency, altered steroid gene expression, decreased Gamma-aminobutyric acid receptor A (GABAA) function, and blood–brain barrier (BBB) dysfunction. Being aware of these mechanisms helps us when we should decide which therapeutic option is more suitable for which patient. © 2024 Elsevier Inc.

Style	Citing Format
MLA	Kowkabi S, et al.. "Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance." Epilepsy and Behavior, vol. 154, no. , 2024, pp. -.
APA	Kowkabi S, Yavarian M, Kaboodkhani R, Mohammadi M, Shervin Badv R (2024). Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance. Epilepsy and Behavior, 154(), -.
Chicago	Kowkabi S, Yavarian M, Kaboodkhani R, Mohammadi M, Shervin Badv R. "Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance." Epilepsy and Behavior 154, no. (2024): -.
Harvard	Kowkabi S et al. (2024) 'Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance', Epilepsy and Behavior, 154(), pp. -.
Vancouver	Kowkabi S, Yavarian M, Kaboodkhani R, Mohammadi M, Shervin Badv R. Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance. Epilepsy and Behavior. 2024;154():-.
BibTex	@article{ author = {Kowkabi S and Yavarian M and Kaboodkhani R and Mohammadi M and Shervin Badv R}, title = {Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance}, journal = {Epilepsy and Behavior}, volume = {154}, number = {}, pages = {-}, year = {2024} }
RIS	TY - JOUR AU - Kowkabi S AU - Yavarian M AU - Kaboodkhani R AU - Mohammadi M AU - Shervin Badv R TI - Pcdh19-Clustering Epilepsy, Pathophysiology and Clinical Significance JO - Epilepsy and Behavior VL - 154 IS - SP - EP - PY - 2024 ER -

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