A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2788-2796

  Abdel Salam, Ghada M H ^a   Schaffer, Ashleigh E ^b   Zaki, Maha S ^a   Dixon Salazar, Tracy ^b   Mostafa, Inas S ^a   Afifi, Hanan H ^a   Gleeson, Joseph G ^b  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Autosomal recessive; Burst suppression; Epilepsy; Infantile diabetes mellitus; Microcephaly; Wolcott Rallison syndrome

Indexed keywords

ANTICONVULSIVE AGENT; DIAZEPAM; INSULIN; VALPROIC ACID;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; BRAIN HEMATOMA; BRAIN MALFORMATION; CASE REPORT; CHILD; CLINODACTYLY; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CONTINUOUS INFUSION; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; DEATH; DIABETES MELLITUS; DRUG RESPONSE; EGYPT; ELECTROENCEPHALOGRAM; FEMALE; FETUS; FRACTURE; GENE; GENE MUTATION; HIRSUTISM; HOMOZYGOSITY; HUMAN; HYPERGLYCEMIA; IER3IP1 GENE; INFANT; IRON DEFICIENCY ANEMIA; MALE; MICROALBUMINURIA; MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN EPILEPSY AND PERMANENT NEONATAL DIABETES SYNDROME; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPENIA; OSTEOPOROSIS; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; THROMBOCYTOPENIA; TONIC CLONIC SEIZURE;

BASE SEQUENCE; BONE AND BONES; BRAIN; CARRIER PROTEINS; CHILD, PRESCHOOL; CONSANGUINITY; DIABETES MELLITUS, TYPE 1; EPIPHYSES; FACIES; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE;

EID: 84867783046     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35583     Document Type: Article

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