A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy

Brain and Development

Volumn 38, Issue 8, 2016, Pages 750-754

  Kim, Young Ok ^a   Yang, Jae Hyuk ^a   Park, Chungoo ^b   Kim, Seul Kee ^a   Kim, Myeong Kyu ^a   Shin, Myung Geun ^a   Woo, Young Jong ^a  

^a Chonnam National University Medical School   (South Korea)

^b Chonnam National University   (South Korea)

Author keywords

Epileptic encephalopathy; Focal seizure; Genetics; Infant; PIGA

Indexed keywords

ANTICONVULSIVE AGENT; CD16 ANTIGEN; GLUTAMIC ACID; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; LYSINE; PHOSPHATIDYLINOSITOL GLYCAN BIOSYNTHESIS A PROTEIN; PROTEIN; UNCLASSIFIED DRUG; FC RECEPTOR; FCGR3B PROTEIN, HUMAN; MEMBRANE PROTEIN; PHOSPHATIDYLINOSITOL GLYCAN-CLASS A PROTEIN;

ARTICLE; CASE REPORT; CELL SURFACE; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; ERYTHROCYTE; FAMILY; FEMALE; FEVER; FOCAL EPILEPSY; GAIT DISORDER; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HIPPOCAMPAL SCLEROSIS; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; KETOGENIC DIET; MALE; MISSENSE MUTATION; NEUROIMAGING; PHOSPHATIDYLINOSITOL GLYCAN BIOSYNTHESIS A GENE; PRESCHOOL CHILD; PROTEIN EXPRESSION; RECURRENT DISEASE; SANGER SEQUENCING; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; VIRUS INFECTION; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; BLOOD; DEFICIENCY; FATALITY; GENETICS; GENOTYPING TECHNIQUE; MUTATION; MYOCLONUS EPILEPSY; PEDIGREE; SPASMS, INFANTILE;

CHILD; EPILEPSIES, MYOCLONIC; FAMILY; FATAL OUTCOME; GENOTYPING TECHNIQUES; GPI-LINKED PROTEINS; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; RECEPTORS, IGG; SPASMS, INFANTILE;

EID: 84975687587     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2016.02.008     Document Type: Article

References (10)

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