Open AccessMenkes disease – An important cause of early onset refractory seizures
Author(s) -
Puneet Jain,
Lakshminarayanan Kannan,
Biswaroop Chakrabarty,
Atin Kumar,
Neerja Gupta,
Madhulika Kabra,
Sheffali Gulati
Publication year - 2014
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.131471
Subject(s) - medicine , refractory (planetary science) , pediatrics , disease , menkes disease , epilepsy , intensive care medicine , psychiatry , copper metabolism , chemistry , organic chemistry , copper , physics , astrobiology
Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities.