SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Clinical Genetics

Volumn 88, Issue 4, 2015, Pages 327-335

  Heimer, G ^a,b   Marek Yagel, D ^a   Eyal, E ^c   Barel, O ^c   Oz Levi, D ^d   Hoffmann, C ^c   Ruzzo, E K ^e   Ganelin Cohen, E ^a   Lancet, D ^d   Pras, E ^f,g   Rechavi, G ^c,g   Nissenkorn, A ^a,g   Anikster, Y ^a,g   Goldstein, D B ^h   Ben Zeev, B ^a,g  

^a Edmond and Lily Safra Children's Hospital   (Israel)

^b The Pinchas Borenstein Talpiot Medical Leadership Program   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

^d WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^g TEL AVIV UNIVERSITY   (Israel)

^h Columbia University Medical Center ^*  (United States)

Author keywords

Acquired microcephaly; ASCT1; Cerebral atrophy; Mental retardation; Seizures; Serine; SLC1A4; Spastic quadriparesis; Thin corpus callosum

Indexed keywords

AMINO ACID; SERINE; AMINO ACID TRANSPORTER; SLC1A4 PROTEIN, HUMAN;

ARTICLE; ASHKENAZI JEW; ASTROCYTE; BRAIN ATROPHY; BRAIN MALFORMATION; CASE REPORT; CHILD; CORPUS CALLOSUM; ELECTROENCEPHALOGRAM; EXOME; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; IRAQI; MICROCEPHALY; MISSENSE MUTATION; NERVE CELL; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGRESSIVE MICROCEPHALY; SEIZURE; SLC1A4 GENE; SPASTICITY; THIN CORPUS CALLOSUM; AMINO ACID SEQUENCE; CHEMISTRY; COMPLICATION; CORPUS CALLOSUM AGENESIS; DNA MUTATIONAL ANALYSIS; GENETICS; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE; SEQUENCE ALIGNMENT;

AGENESIS OF CORPUS CALLOSUM; AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEM ASC; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUSCLE SPASTICITY; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 84941614794     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12637     Document Type: Article

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