Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Epilepsia

Volumn 56, Issue 3, 2015, Pages 422-430

  Paciorkowski, Alex R ^a   McDaniel, Sharon S ^b   Jansen, Laura A ^c   Tully, Hannah ^d,e   Tuttle, Emily ^a   Ghoneim, Dalia H ^a   Tupal, Srinivasan ^c   Gunter, Sonya A ^c   Vasta, Valeria ^e   Zhang, Qing ^e   Tran, Thao ^e   Liu, Yi B ^f   Ozelius, Laurie J ^g   Brashear, Allison ^h   Sweadner, Kathleen J ⁱ   Dobyns, William B ^e,j   Hahn, Sihoun ^e,j  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b KAISER PERMANENTE   (United States)

^c UNIVERSITY OF VIRGINIA   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^h WAKE FOREST SCHOOL OF MEDICINE   (United States)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

^j UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Apnea; ATP1A3; Early life epilepsy; K ATPase; Na; Next generation sequencing; Postnatal microcephaly

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM) ALPHA 3; ANTICONVULSIVE AGENT; ETIRACETAM; LAMOTRIGINE; PHENOBARBITAL; UNCLASSIFIED DRUG; ATP1A3 PROTEIN, HUMAN; ENZYME INHIBITOR; GLUTAMATE DECARBOXYLASE; GLUTAMATE DECARBOXYLASE 2; OUABAIN;

APNEA; ARTICLE; AUTOPSY; BRAIN CORTEX; CASE REPORT; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; EPILEPSY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOREACTIVITY; INFANT; INTERNEURON; MALE; MICROCEPHALY; NEUROPATHOLOGY; NEWBORN; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; BRAIN; CHEMICAL STRUCTURE; COMPLICATION; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; GENETIC TRANSFECTION; GENETICS; HEK293 CELL LINE; METABOLISM; MUTATION; NERVOUS SYSTEM DISEASES; PATHOLOGY; PSYCHOLOGY; TERMINAL DISEASE;

BRAIN; CATASTROPHIC ILLNESS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; ENZYME INHIBITORS; EPILEPSY; FEMALE; GLUTAMATE DECARBOXYLASE; HEK293 CELLS; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MUTATION; NERVOUS SYSTEM DISEASES; OUABAIN; SODIUM-POTASSIUM-EXCHANGING ATPASE; TRANSFECTION;

EID: 84924957224     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12914     Document Type: Article

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