AGC1 deficiency causes infantile epilepsy, abnormal myelination, and reduced N-acetylaspartate;Erratum: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate (JIMD Reports, (2014) 14, 10.1007/8904_2013_287)

JIMD Reports

Volumn 14, Issue , 2014, Pages 119-

  Falk, Marni J ^a,g   Li, Dong ^a   Gai, Xiaowu ^b   McCormick, Elizabeth ^a   Place, Emily ^a,f   Lasorsa, Francesco M ^c   Otieno, Frederick G ^a   Hou, Cuiping ^a   Kim, Cecilia E ^a   Abdel Magid, Nada ^a   Vazquez, Lyam ^a   Mentch, Frank D ^a   Chiavacci, Rosetta ^a   Liang, Jinlong ^d   Liu, Xuanzhu ^d   Jiang, Hui ^d   Giannuzzi, Giulia ^e   Marsh, Eric D ^a   Guo, Yiran ^a   Tian, Lifeng ^a   Palmieri, Ferdinando ^c,e   Hakonarson, Hakon ^a   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b LOYOLA UNIVERSITY CHICAGO   (United States)

^c CNR   (Italy)

^d BGI SHENZHEN   (China)

^e UNIVERSITY OF BARI   (Italy)

^f HARVARD MEDICAL SCHOOL   (United States)

^g Harvard Medical School ^*  (United States)

Author keywords

Ketogenic diet; Mitochondrial disease; Intractable epilepsy; Whole exome sequencing; Epileptic encephalopathy

Indexed keywords

EID: 85060294936     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_287     Document Type: Chapter

References (0)