Figure 5, [Figure 5-A. Paternally transmitted rs 25409 (P11S) in CAE (Tanaka et al., 2008)]. - Jasper's Basic Mechanisms of the Epilepsies - NCBI Bookshelf

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Figure 5. Figure 5-A.

Figure 5

Figure 5-A. Paternally transmitted rs 25409 (P11S) in CAE (Tanaka et al., 2008¹)

The rare variant (dbSNP ID, rs 25409 (P11S)) is segregated in affected persons in two families out of four families with rCAE probands as reported.¹ Black circles (female) or squares (males) represent epilepsy affected probands. Asymptomatic persons who have EEG 3 Hz diffuse bilateral spike wave complexes or 5 to 6 Hz sharp waves are represented by half black circles or squares.

Figure 5-B. Maternally transmitted rs 25409 (P11S) in Autism (Delahanty et al., 2011¹⁹)

The strictly autism phenotype was shown to be significant in maternal transmission with a genotype relative risk of 6.00 (95% confidence interval 1.62–22.16, P=0.007). Only probands (4 out of 17) with P11S exhibited seizures in this study. One of these probands exhibited paternal transmission while the other three were maternally transmitted. Individuals who meet the criteria for autism on the Autism Diagnostic Interview,¹⁹ are represented by completely filled black symbols. Individuals who meet the criteria for ASD1 or ASD2 are represented by half-filled black symbols. (ASD1): Meets criteria on Social domain and meets criteria on either Communication or Behavior domain. (ASD2): Meets criteria on Social and Communication domains or meets criteria on Social and within 2 points of Communication criteria or meets criteria on Communication and within 2 points of Social criteria or within 1 point on both Social and Communication domains.⁷⁷

From: GABRB3, Epilepsy, and Neurodevelopment

Cover of Jasper's Basic Mechanisms of the Epilepsies

Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition.

Noebels JL, Avoli M, Rogawski MA, et al., editors.

Bethesda (MD): National Center for Biotechnology Information (US); 2012.

Copyright © 2012, Michael A Rogawski, Antonio V Delgado-Escueta, Jeffrey L Noebels, Massimo Avoli and Richard W Olsen.

All Jasper's Basic Mechanisms of the Epilepsies content, except where otherwise noted, is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported license, which permits copying, distribution and transmission of the work, provided the original work is properly cited, not used for commercial purposes, nor is altered or transformed.

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