Infantile spasms and Menkes disease-Reference-Cited by-同舟云学术

Infantile spasms and Menkes disease

Published:2000-12 Issue:4 Volume:2 Page:227-230
ISSN:1294-9361
Container-title:Epileptic Disorders
language:en
Short-container-title:Epileptic Disorders

Author:

Sfaello Ignacio¹²,Castelnau Pierre¹,Blanc Nathalie¹,Ogier Hélène¹,Evrard Philippe¹,Arzimanoglou Alexis¹

Affiliation:

1. Epilepsy Programme Child Neurology and Metabolic Diseases Service Hôpital Robert‐Debré Paris France

2. Department of Neurology Catholic University of Cordoba Argentina

Abstract

ABSTRACT Epileptic seizures are a common feature in Menkes disease, an X‐linked genetic disorder of copper metabolism. Details of type of seizures are rarely reported. We report the evolution of infantile spasms in two patients with Menkes disease and the relation with subcutaneous administration of copperhistidine.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1684/j.1950-6945.2000.tb00448.x

Reference11 articles.

1. A sex‐linked recessive disorder with growth retardation, peculiar hair, and focal cerebral and cerebelar degeneration;Menkes JH;Pediatrics,1962

2. Menkes disease and Wilson disease: two sides of the same copper coin Part 1: Menkes disease

3. MENKES'S KINKY HAIR SYNDROME

4. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

5. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

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1. Epilepsy in inborn errors of metabolism;Epileptic Disorders;2005-06