scholarly journals Novel VAC14 variants identified in two Chinese siblings with childhood‐onset striatonigral degeneration

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Shuang Liao ◽  
Tingting Chen ◽  
Ying Dai ◽  
Yanqin Wang ◽  
Fangrui Wu ◽  
...  
Keyword(s):  
Childhood Onset ◽  
Striatonigral Degeneration

Anti-Myelin Oligodendrocyte Glycoprotein Encephalomyelitis and Extensive Longitudinal Transverse Myelitis Associated with Compound Heterozygous NLRP3 Missense Mutations in a Young Child

2020 ◽  
Author(s):  
Deirdre O'Sullivan ◽  
Michael Moore ◽  
Susan Byrne ◽  
Andreas O. Reiff ◽  
Susanna Felsenstein
Keyword(s):  
Young Child ◽  
Genetic Basis ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
Myelin Oligodendrocyte Glycoprotein ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Childhood Onset

AbstractAcute disseminated encephalomyelitis in association with extensive longitudinal transverse myelitis is reported in a young child with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibody with heterozygous NLRP3 missense mutations; p.(Arg488Lys) and p.(Ser159Ile). This case may well present an exceptional coincidence, but may describe a yet unrecognized feature of the spectrum of childhood onset cryopyrinopathies that contribute to the understanding of the genetic basis for anti-MOG antibody positive encephalomyelitis. Based on this observation, a larger scale study investigating the role of NLRP3 and other inflammasomes in this entity would provide important pathophysiological insights and potentially novel avenues for treatment.

HIGH DOSE DIAZEPAM (HDD) IN CHILDHOOD-ONSET EPILEPTIC ENCEPHALOPATHIES WITH SLEEP ACTIVATED EEG (EESA_EEG)

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Hadjiloizou ◽  
B Bourgeois ◽  
F Duffy ◽  
AM Bergin ◽  
M Takeoka ◽  
...  
Keyword(s):  
High Dose ◽  
Childhood Onset ◽  
Epileptic Encephalopathies

Transition and beyond in childhood onset type 1 diabetes

2014 ◽  
Author(s):  
Suma Uday ◽  
James Yong ◽  
Fiona Campbell ◽  
Ramzi Ajjan
Keyword(s):  
Type 1 Diabetes ◽  
Childhood Onset ◽  
Onset Type
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