BRAT1mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood-Reference-Cited by-同舟云学术

BRAT1mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood

Author:

Horn Denise¹,Weschke Bernhard²,Knierim Ellen²,Fischer-Zirnsak Björn¹³,Stenzel Werner⁴,Schuelke Markus²,Zemojtel Tomasz⁵⁶

Affiliation:

1. Institut für Medizinische Genetik und Humangenetik; Charité-Universitätsmedizin Berlin; Berlin Germany

2. Klinik für Pädiatrie m.S. Neurologie & NeuroCure Clinical Research Center; Charité-Universitätsmedizin Berlin; Berlin Germany

3. Max-Planck-Institut für Molekulare Genetik; FG Development & Disease; Berlin Germany

4. Institut für Neuropathologie; Charité-Universitätsmedizin Berlin; Berlin Germany

5. Institute of Bioorganic Chemistry; Polish Academy of Sciences; Poznan Poland

6. Labor Berlin-Charité Vivantes GmbH; Humangenetik; Berlin Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference11 articles.

3. BRAT1-related disease-identification of a patient without early lethality;Mundy;Am J Med Genet Part A,2015

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