Literature DB >> 20979196

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Volker Endris1, Karl Hackmann, Teresa M Neuhann, Ute Grasshoff, Michael Bonin, Ulrich Haug, Gabriele Hahn, Jens C Schallner, Evelin Schröck, Sigrid Tinschert, Gudrun Rappold, Ute Moog.   

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Year:  2010        PMID： 20979196     DOI： 10.1002/ajmg.a.33692

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  22 in total

1.  Genetic testing in epilepsy: what should you be doing?

Authors:  Ingrid E Scheffer
Journal:  Epilepsy Curr       Date:  2011-07       Impact factor: 7.500

2.  The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping.

Authors:  Ridha Joober
Journal:  J Psychiatry Neurosci       Date:  2011-05       Impact factor: 6.186

3.  Cortical parvalbumin GABAergic deficits with α7 nicotinic acetylcholine receptor deletion: implications for schizophrenia.

Authors:  Hong Lin; Fu-Chun Hsu; Bailey H Baumann; Douglas A Coulter; Stewart A Anderson; David R Lynch
Journal:  Mol Cell Neurosci       Date:  2014-06-28       Impact factor: 4.314

4.  Clinical utility gene card for: 15q13.3 microdeletion syndrome.

Authors:  Maria Tropeano; Joris Andrieux; Evangelos Vassos; David A Collier
Journal:  Eur J Hum Genet       Date:  2014-05-14       Impact factor: 4.246

5.  Rare copy number variants are an important cause of epileptic encephalopathies.

Authors:  Heather C Mefford; Simone C Yendle; Cynthia Hsu; Joseph Cook; Eileen Geraghty; Jacinta M McMahon; Orvar Eeg-Olofsson; Lynette G Sadleir; Deepak Gill; Bruria Ben-Zeev; Tally Lerman-Sagie; Mark Mackay; Jeremy L Freeman; Eva Andermann; James T Pelakanos; Ian Andrews; Geoffrey Wallace; Evan E Eichler; Samuel F Berkovic; Ingrid E Scheffer
Journal:  Ann Neurol       Date:  2011-12       Impact factor: 10.422

Review 6.  The human clinical phenotypes of altered CHRNA7 copy number.

Authors:  Madelyn A Gillentine; Christian P Schaaf
Journal:  Biochem Pharmacol       Date:  2015-06-18       Impact factor: 5.858

7.  Macrocerebellum: significance and pathogenic considerations.

Authors:  Andrea Poretti; Volker Mall; Martin Smitka; Sebastian Grunt; Sarah Risen; Sandra P Toelle; Jane E Benson; Shoko Yoshida; Nikolai H Jung; Sigrid Tinschert; Teresa M Neuhann; Anita Rauch; Maja Steinlin; Avner Meoded; Thierry A G M Huisman; Eugen Boltshauser
Journal:  Cerebellum       Date:  2012-12       Impact factor: 3.847

8.  Cortical synaptic NMDA receptor deficits in α7 nicotinic acetylcholine receptor gene deletion models: implications for neuropsychiatric diseases.

Authors:  Hong Lin; Fu-Chun Hsu; Bailey H Baumann; Douglas A Coulter; David R Lynch
Journal:  Neurobiol Dis       Date:  2013-12-08       Impact factor: 5.996

9.  Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.

Authors:  Jiani Yin; Wu Chen; Eugene S Chao; Sirena Soriano; Li Wang; Wei Wang; Steven E Cummock; Huifang Tao; Kaifang Pang; Zhandong Liu; Fred A Pereira; Rodney C Samaco; Huda Y Zoghbi; Mingshan Xue; Christian P Schaaf
Journal:  Am J Hum Genet       Date:  2018-02-01       Impact factor: 11.025

10.  Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.

Authors:  Jean-Baptiste Le Pichon; Shihui Yu; Nataliya Kibiryeva; William D Graf; Douglas C Bittel
Journal:  Eur J Hum Genet       Date:  2013-01-30       Impact factor: 4.246
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