Literature DB >> 30771731

A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy.

Dilsad Turkdogan1, Ayberk Turkyilmaz2, Zeliha Gormez3, Gunes Sager4, Gazanfer Ekinci5.   

Abstract

Entities:  

Year:  2019        PMID： 30771731     DOI： 10.1016/j.seizure.2019.01.010

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


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  3 in total

Review 1.  RHO to the DOCK for GDP disembarking: Structural insights into the DOCK GTPase nucleotide exchange factors.

Authors:  Andrew P Thompson; Christina Bitsina; Janine L Gray; Frank von Delft; Paul E Brennan
Journal:  J Biol Chem       Date:  2021-03-05       Impact factor: 5.157

2.  Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.

Authors:  Fatma Kivrak Pfiffner; Samuel Koller; Anika Ménétrey; Urs Graf; Luzy Bähr; Alessandro Maspoli; Annette Hackenberg; Raimund Kottke; Christina Gerth-Kahlert; Wolfgang Berger
Journal:  Int J Mol Sci       Date:  2022-07-02       Impact factor: 6.208

3.  Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.

Authors:  Edda Haberlandt; Taras Valovka; Tanja Janjic; Thomas Müller; Georgios Blatsios; Daniela Karall; Andreas R Janecke
Journal:  Mol Genet Genomic Med       Date:  2021-01-20       Impact factor: 2.183
  3 in total

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