Novel Mutation in SLC6A19 Causing Late-Onset Seizures in Hartnup Disorder

Pediatric Neurology

Volumn 42, Issue 5, 2010, Pages 369-371

  Cheon, Chong Kun ^a   Lee, Beom Hee ^b   Ko, Jung Min ^c   Kim, Hyun Ji ^d   Yoo, Han Wook ^b  

^a Children's Hospital   (South Korea)

^b Asan Medical Center   (South Korea)

^c Ajou University Medical CentSuwon   (South Korea)

^d Wallace Memorial Baptist Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; CITRULLINE; GLUTAMINE; HISTIDINE; HYDROXYPROLINE; ISOLEUCINE; LEUCINE; MEMBRANE PROTEIN; METHYLPHENIDATE; NICOTINAMIDE; PHENOBARBITAL; PHENYLALANINE; PROLINE; SERINE; SLC6A19 PROTEIN; THREONINE; TRYPTOPHAN; TYROSINE; UNCLASSIFIED DRUG; VALINE; AMINO ACID TRANSPORTER; SLC6A19 PROTEIN, HUMAN;

AMINO ACID ANALYSIS; ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CORPUS CALLOSUM; FLUSHING; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HARTNUP DISEASE; HETEROZYGOSITY; HUMAN; INTELLIGENCE QUOTIENT; KNEE; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PELLAGRA; PRIORITY JOURNAL; PRURITUS; SCHOOL CHILD; SIDE EFFECT; SUN EXPOSURE; TONIC CLONIC SEIZURE; URINALYSIS; WALKING; COMPLICATION; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; SEIZURES;

AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; BASE SEQUENCE; CHILD; HARTNUP DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SEIZURES;

EID: 77950599445     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.01.009     Document Type: Article

References (14)

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