Literature DB >> 28950998

Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.

Brittany A Charsar1, Ethan M Goldberg2.   

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Year:  2017        PMID： 28950998      PMCID： PMC5679277          DOI： 10.1016/j.pediatrneurol.2017.08.003

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  4 in total

1.  Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

Authors:  O T Suzuki; A L Sertié; V M Der Kaloustian; F Kok; M Carpenter; J Murray; A E Czeizel; S E Kliemann; S Rosemberg; M Monteiro; B R Olsen; M R Passos-Bueno
Journal:  Am J Hum Genet       Date:  2002-11-01       Impact factor: 11.025

2.  Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Authors:  Mark A Corbett; Samantha J Turner; Alison Gardner; Jeremy Silver; Jim Stankovich; Richard J Leventer; Christopher P Derry; Renée Carroll; Thuong Ha; Ingrid E Scheffer; Melanie Bahlo; Graeme D Jackson; David A Mackey; Samuel F Berkovic; Jozef Gecz
Journal:  Eur J Med Genet       Date:  2017-06-08       Impact factor: 2.708

3.  Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

Authors:  A L Sertié; V Sossi; A A Camargo; M Zatz; C Brahe; M R Passos-Bueno
Journal:  Hum Mol Genet       Date:  2000-08-12       Impact factor: 6.150

4.  Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.

Authors:  Coro Paisán-Ruiz; Geoff Scopes; Philip Lee; Henry Houlden
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2009-10-05       Impact factor: 3.568
  4 in total
  3 in total

1.  Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.

Authors:  Shuk Ching Chong; Yuet-Ping Yuen; Ye Cao; Sze-Shing Fan; Tak Yeung Leung; Emily K Y Chan; Xian Lun Zhu
Journal:  Front Neurol       Date:  2022-05-26       Impact factor: 4.086

2.  Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.

Authors:  Anja K Mayer; Ghassan Balousha; Rajech Sharkia; Muhammad Mahajnah; Suhail Ayesh; Martin Schulze; Rebecca Buchert; Ditta Zobor; Abdussalam Azem; Ludger Schöls; Peter Bauer; Bernd Wissinger
Journal:  Eur J Hum Genet       Date:  2020-01-02       Impact factor: 4.246

3.  The spectrum of brain malformations and disruptions in twins.

Authors:  Kaylee B Park; Teresa Chapman; Kimberly A Aldinger; Ghayda M Mirzaa; Jordan Zeiger; Anita Beck; Ian A Glass; Robert F Hevner; Anna C Jansen; Desiree A Marshall; Renske Oegema; Elena Parrini; Russell P Saneto; Cynthia J Curry; Judith G Hall; Renzo Guerrini; Richard J Leventer; William B Dobyns
Journal:  Am J Med Genet A       Date:  2020-11-18       Impact factor: 2.802
  3 in total

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