Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K + Channel Kir4.1

Neurobiology of Disease

Volumn 43, Issue 1, 2011, Pages 239-247

  Sicca, Federico ^a   Imbrici, Paola ^b   D'Adamo, Maria Cristina ^b   Moro, Francesca ^a   Bonatti, Fabrizia ^a   Brovedani, Paola ^a   Grottesi, Alessandro ^c   Guerrini, Renzo ^a,d   Masi, Gabriele ^a   Santorelli, Filippo Maria ^a   Pessia, Mauro ^b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b UNIVERSITY OF PERUGIA   (Italy)

^c CASPUR   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Autism; Epilepsy; Intellectual disability; Mental retardation; Seizures

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL KIR4.1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTISM; CELL PH; CHANNEL GATING; CHILD; CHROMOSOME ANALYSIS; COGNITIVE DEFECT; COMMUNICATION DISORDER; CONTROLLED STUDY; CRYSTAL STRUCTURE; FEMALE; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC CONSERVATION; HETEROLOGOUS EXPRESSION; HETEROZYGOSITY; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MOLECULAR EVOLUTION; MOTHER; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; POTASSIUM CONDUCTANCE; POTASSIUM CURRENT; PRIORITY JOURNAL; SEIZURE;

ADOLESCENT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; EPILEPSY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; YOUNG ADULT;

EID: 79955958245     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.03.016     Document Type: Article

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