Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency

JAMA Neurology

Volumn 71, Issue 6, 2014, Pages 782-784

  Holder, J Lloyd ^a   Agadi, Satish ^a   Reese, William ^b   Rehder, Catherine ^b   Quach, Michael M ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b DUKE UNIVERSITY HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CLONAZEPAM; SULFITE OXIDASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEGENERATION; CASE REPORT; CHILD; CONSANGUINITY; ELECTROENCEPHALOGRAM; GENE MUTATION; HOMOZYGOTE; HUMAN; HYPEREKPLEXIA; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; INTRACTABLE EPILEPSY; ISOLATED SULFITE OXIDASE DEFICIENCY; MALE; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SUOX GENE; TONIC SEIZURE; WHITE MATTER LESION;

AMINO ACID METABOLISM, INBORN ERRORS; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS; SEIZURES; SPASMS, INFANTILE; STIFF-PERSON SYNDROME; SULFITE OXIDASE;

EID: 84902153452     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.5083     Document Type: Article

References (6)

1. Brown GK, Scholem RD, Croll HB,Wraith JE, McGill JJ. Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. Neurology. 1989;39(2, pt 1): 252-257 (Pubitemid 19059315)
2. Macaya A, Brunso L, Fernández-Castillo N, et al. Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Neuropediatrics. 2005;36(6): 389-394 (Pubitemid 43162351)
3. Johnson JL, Coyne KE, Garrett RM, et al. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. Hum Mutat. 2002; 20(1):74-79
4. Mudd SH, Irreverre F, Laster L. Sulfite oxidase deficiency in man: demonstration of the enzymatic defect. Science. 1967;156(3782):1599-1602
5. Hoffmann C, Ben-Zeev B, Anikster Y, et al. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. J Child Neurol. 2007;22(10): 1214-1221
6. KatoM. A new paradigm forWest syndrome based on molecular and cell biology. Epilepsy Res. 2006;70(suppl 1):S87-S95