Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Metabolic Brain Disease

Volumn 30, Issue 3, 2015, Pages 687-694

  Ben Salem, Salma ^a   Gleeson, Joseph G ^b   Al Shamsi, Aisha M ^c   Islam, Barira ^a   Hertecant, Jozef ^a,c   Ali, Bassam R ^a   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c TAWAM HOSPITAL   (United Arab Emirates)

Author keywords

ASNS; Asparagine synthetase deficiency; Epileptic encephalopathy; Hypomorphic mutation; Microcephaly; WES

Indexed keywords

ANTICONVULSIVE AGENT; PHENOBARBITAL; ASPARTATE AMMONIA LIGASE;

ANTICONVULSANT THERAPY; ARTICLE; ASPARAGINE SYNTHETASE DEFICIENCY; ASPARAGINE SYNTHETASE GENE; AUTOSOMAL RECESSIVE DISORDER; BRAIN MALFORMATION; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EMIRATI; ENZYME ACTIVITY; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; LENNOX GASTAUT SYNDROME; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR MODEL; MUTATION RATE; MUTATOR GENE; MYOCLONUS SEIZURE; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PROTEIN STRUCTURE; PSYCHOMOTOR DISORDER; RARE DISEASE; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; ADOLESCENT; AMINO ACID SEQUENCE; BRAIN DISEASES; COMPLICATION; DEFICIENCY; EPILEPSY; EXOME; FEMALE; GENETICS; INFANT; INTELLECTUAL DISABILITY; MOLECULAR GENETICS; NEWBORN; PEDIGREE; PROTEIN SECONDARY STRUCTURE; PSYCHOMOTOR DISORDERS;

ADOLESCENT; AMINO ACID SEQUENCE; ASPARTATE-AMMONIA LIGASE; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; EPILEPSY; EXOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; PSYCHOMOTOR DISORDERS;

EID: 84928693524     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-014-9618-0     Document Type: Article

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