Literature DB >> 25543316

Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene.

Debopam Samanta1, Erin Willis2.   

Abstract

Entities:  

Keywords:  ANKRD11 mutation; Characteristic EEG; Epilepsy; KBG syndrome

Mesh：

Substances：

Year:  2014        PMID： 25543316     DOI： 10.1007/s13760-014-0413-9

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  4 in total

1.  KBG syndrome mimicking genetic generalized epilepsy.

Authors:  M J Murphy; N McSweeney; G L Cavalleri; M T Greally; K A Benson; D J Costello
Journal:  Epilepsy Behav Rep       Date:  2022-04-20

2.  Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Authors:  Francesca Novara; Berardo Rinaldi; Sanjay M Sisodiya; Antonietta Coppola; Sabrina Giglio; Franco Stanzial; Francesco Benedicenti; Alan Donaldson; Joris Andrieux; Rachel Stapleton; Astrid Weber; Paolo Reho; Conny van Ravenswaaij-Arts; Wilhelmina S Kerstjens-Frederikse; Joris Robert Vermeesch; Koenraad Devriendt; Carlos A Bacino; Andrée Delahaye; S M Maas; Achille Iolascon; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2017-04-19       Impact factor: 4.246

3.  ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

Authors:  Satoko Miyatake; Nobuhiko Okamoto; Zornitza Stark; Makoto Nabetani; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Takeshi Mizuguchi; Akira Ohtake; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2017-03-02       Impact factor: 3.172

4.  Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.

Authors:  Fenqi Gao; Xiu Zhao; Bingyan Cao; Xin Fan; Xiaoqiao Li; Lele Li; Shengbin Sui; Zhe Su; Chunxiu Gong
Journal:  J Pers Med       Date:  2022-03-05
  4 in total

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