Infantile spasms and Menkes disease

Epileptic Disorders

Volumn 2, Issue 4, 2000, Pages 227-230

  Sfaello, I ^a   Castelnau, P ^a   Blanc, N ^a   Ogier, H ^a   Evrard, P ^a   Arzimanoglou, A ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Copper histidine; Epilepsy; Infantile spasms; Menkes disease

Indexed keywords

COPPER; HISTIDINE COPPER; HISTIDINE DERIVATIVE; UNCLASSIFIED DRUG; VIGABATRIN;

ANTICONVULSANT THERAPY; ARTICLE; COPPER METABOLISM; HUMAN; IMAGE ANALYSIS; INFANT; INFANTILE SPASM; MALE; MENKES SYNDROME; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE;

BRAIN; CERULOPLASMIN; COPPER; ELECTROENCEPHALOGRAPHY; HISTIDINE; HUMANS; INFANT; INFANT, NEWBORN; LACTIC ACID; MAGNETIC RESONANCE ANGIOGRAPHY; MAGNETIC RESONANCE IMAGING; MALE; MENKES KINKY HAIR SYNDROME; ORGANOMETALLIC COMPOUNDS; SPASMS, INFANTILE; ULTRASONOGRAPHY, DOPPLER;

EID: 0034485321     PISSN: 12949361     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. A sex-linked recessive disorder with growth retardation, peculiar hair, and focal cerebral and cerebelar degeneration
2. Menkes disease and Wilson disease: Two sides of the same copper coin, part I: Menkes disease
3. Menkes kinky hair syndrome: An inherited defect in copper absorption with widespread effects
4. Isolation of a candidate gene for Menkes disease which encodes for a potential heavy metal binding protein
5. Isolation of a candidate gene for Menkes disease and evidence that this encodes a copper-transporting ATPase
6. Molecular mechanisms of copper metabolism and the role of the Menkes disease protein
7. Menkes disease
8. Biochemical response to copper histidine therapy in Menkes disease
9. Spectrum of EEG findings in Menkes disease
10. Menkes disease, neurophysiological aspects
11. Clinical and biochemical consequences of copper-histidine therapy in Menkes disease