Journal article icon

Journal article

Milder phenotypes of glucose transporter type 1 deficiency syndrome.

Abstract:

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes with movement disorders and early-onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia (cerebrospinal fluid [CSF] glucose<2.2 mmol/l) in the presence of normoglycaem...

Expand abstract
Publication status:
Published

Actions


Access Document


Authors


Journal:
Developmental medicine and child neurology More from this journal
Volume:
53
Issue:
7
Pages:
664-668
Publication date:
2011-07-01
DOI:
EISSN:
1469-8749
ISSN:
0012-1622
Language:
English
Keywords:
Pubs id:
pubs:241011
UUID:
uuid:ad902cff-a8f3-4443-9546-03bd588e5c91
Local pid:
pubs:241011
Source identifiers:
241011
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP