Literature DB >> 23022981

Frontotemporal pachygyria-two new patients.

Kristiina Avela1, Sanna Toiviainen-Salo, Pirkko Karttunen-Lewandowski, Leena Kauria, Leena Valanne, Riitta Salonen-Kajander.   

Abstract

We describe two Finnish brothers with frontotemporal pachygyria, intellectual deficiency and mild dysmorphisms. Previously, only a few cases of similar frontotemporal pachygyria have been reported. This report provides further evidence about frontotemporal pachygyria being a distinct genetic entity inherited as an autosomal recessive trait.
Copyright © 2012 Elsevier Masson SAS. All rights reserved.

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Year:  2012        PMID： 23022981     DOI： 10.1016/j.ejmg.2012.09.007

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  3 in total

1.  Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.

Authors:  Daniel L Polla; Elisa Rahikkala; Michaela K Bode; Tuomo Määttä; Teppo Varilo; Thyrza Loman; Anju K Philips; Mitja Kurki; Aarno Palotie; Jarmo Körkkö; Päivi Vieira; Kristiina Avela; Valérie Jacquemin; Isabelle Pirson; Marc Abramowicz; Arjan P M de Brouwer; Outi Kuismin; Hans van Bokhoven; Irma Järvelä
Journal:  Eur J Hum Genet       Date:  2019-03-26       Impact factor: 4.246

2.  Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Authors:  Nataliya Di Donato; Ying Y Jean; A Murat Maga; Briana D Krewson; Alison B Shupp; Maria I Avrutsky; Achira Roy; Sarah Collins; Carissa Olds; Rebecca A Willert; Agnieszka M Czaja; Rachel Johnson; Jessi A Stover; Steven Gottlieb; Deborah Bartholdi; Anita Rauch; Amy Goldstein; Victoria Boyd-Kyle; Kimberly A Aldinger; Ghayda M Mirzaa; Anke Nissen; Karlla W Brigatti; Erik G Puffenberger; Kathleen J Millen; Kevin A Strauss; William B Dobyns; Carol M Troy; Robert N Jinks
Journal:  Am J Hum Genet       Date:  2016-10-20       Impact factor: 11.025

3.  Pachygyria Presented as Mania.

Authors:  Seshadri Sekhar Chatterjee; Devlina Talapatra; Rudra Acharya; Sujit Sarkhel
Journal:  Indian J Psychol Med       Date:  2015 Oct-Dec
  3 in total

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