PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

Epilepsia

Volumn 55, Issue 2, 2014, Pages

  Nakamura, Kazuyuki ^a   Osaka, Hitoshi ^b   Murakami, Yoshiko ^c   Anzai, Rie ^b   Nishiyama, Kiyomi ^a   Kodera, Hirofumi ^a   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Kinoshita, Taroh ^c   Matsumoto, Naomichi ^a   Saitsu, Hirotomo ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c OSAKA UNIVERSITY   (Japan)

Author keywords

Congenital disorders of glycosylation; Epileptic encephalopathy; Glycosylphosphatidylinositol anchors; PIGO

Indexed keywords

CONGENITAL DISORDERS OF GLYCOSYLATION; EPILEPTIC ENCEPHALOPATHY; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORS; PIGO;

ABNORMALITIES, MULTIPLE; ALKALINE PHOSPHATASE; CHILD; DEVELOPMENTAL DISABILITIES; EPILEPSY; FATAL OUTCOME; FEMALE; GLYCOSYLPHOSPHATIDYLINOSITOLS; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; PHOSPHORUS METABOLISM DISORDERS; SEVERITY OF ILLNESS INDEX;

EID: 84894063829     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12508     Document Type: Article

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