CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

PLoS Genetics

Volumn 10, Issue 4, 2014, Pages

  Arjona, Francisco J ^a   de Baaij, Jeroen H F ^a   Schlingmann, Karl P ^b   Lameris, Anke L L ^a   van Wijk, Erwin ^c   Flik, Gert ^d   Regele, Sabrina ^b   Korenke, G Christoph ^e   Neophytou, Birgit ^f   Rust, Stephan ^g   Reintjes, Nadine ^h   Konrad, Martin ^b   Bindels, René J M ^a   Hoenderop, Joost G J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^e Children's Hospital   (Germany)

^f ST ANNA CHILDREN S HOSPITAL   (Austria)

^g UNIVERSITY OF MÜNSTER   (Germany)

^h UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MAGNESIUM; TRANSIENT RECEPTOR POTENTIAL CHANNEL M7; CNNM2 PROTEIN, HUMAN; CYCLINE;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN MALFORMATION; CATION TRANSPORT; CELL TRANSPORT; CHROMOSOME 10; CLINICAL ARTICLE; CNNM2 GENE; CONTROLLED STUDY; EMBRYO; FEMALE; GASTROINTESTINAL ABSORPTION; GENE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; HYPOMAGNESEMIA; KIDNEY TUBULE ABSORPTION; MAGNESIUM ABSORPTION; MAGNESIUM BLOOD LEVEL; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN DOMAIN; SEIZURE; SPEECH DELAY; ZEBRA FISH; ADOLESCENT; ANIMAL; BRAIN; CELL LINE; GENETICS; HEK293 CELL LINE; INFANT; INTELLECTUAL IMPAIRMENT; KIDNEY; METABOLISM; NEWBORN; PHENOTYPE;

ADOLESCENT; ANIMALS; BRAIN; CELL LINE; CYCLINS; FEMALE; HEK293 CELLS; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; KIDNEY; MAGNESIUM; MALE; MUTATION, MISSENSE; PHENOTYPE; SEIZURES; ZEBRAFISH;

EID: 84901325411     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004267     Document Type: Article

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