Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: Insights into the natural history of a rare disorder

Pediatric Diabetes

Volumn 15, Issue 3, 2014, Pages 252-256

  Shalev, Stavit A ^a   Tenenbaum Rakover, Yardena ^a   Horovitz, Yoseph ^a   Paz, Veronica P ^b   Ye, Honggang ^b   Carmody, David ^b   Highland, Heather M ^c   Boerwinkle, Eric ^c,d   Hanis, Craig L ^c   Muzny, Donna M ^d   Gibbs, Richard A ^d   Bell, Graeme I ^b   Philipson, Louis H ^b   Greeley, Siri Atma W ^b  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

IER3IP1; Microcephaly; Monogenic diabetes; Neonatal diabetes

Indexed keywords

CLONAZEPAM; DNA; GENOMIC DNA; GLUCOSE; GLYCINE; HEMOGLOBIN A1C; INSULIN; INSULIN LISPRO; NUCLEOTIDE; PHENOBARBITAL; TOPIRAMATE; VALINE; VIGABATRIN; CARRIER PROTEIN; IER3IP1 PROTEIN, HUMAN; MEMBRANE PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; BRAIN CORTEX; CASE REPORT; CEREBRAL BLINDNESS; COMPOUND HETEROZYGOUS MUTATION; CONTINUOUS INFUSION; DIABETES CONTROL; DIABETES MELLITUS; DISEASE COURSE; ELECTROENCEPHALOGRAM; EXOME; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOME; GLUCOSE BLOOD LEVEL; HETEROZYGOTE; HUMAN; IMMEDIATE EARLY RESPONSE-3 INTERACTING PROTEIN 1 GENE; INFANT; INSULIN INFUSION; INSULIN TREATMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; NEONATAL DIABETES; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PNEUMONIA; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC CLONIC SEIZURE; AMINO ACID SUBSTITUTION; BLINDNESS, CORTICAL; DEVELOPMENTAL DISABILITIES; EPILEPSY, GENERALIZED; FATALITY; GENETICS; NEUROLOGIC DISEASE; NEWBORN; NEWBORN DISEASE; PATHOPHYSIOLOGY; POINT MUTATION; SEVERITY OF ILLNESS INDEX;

AMINO ACID SUBSTITUTION; BLINDNESS, CORTICAL; CARRIER PROTEINS; DEVELOPMENTAL DISABILITIES; DIABETES MELLITUS; EPILEPSY, GENERALIZED; FATAL OUTCOME; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; MEMBRANE PROTEINS; MICROCEPHALY; NEUROLOGIC MANIFESTATIONS; POINT MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 84900487974     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/pedi.12086     Document Type: Article

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