Article

Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.

Department of Pediatrics, Kakogawa Hospital Organization, Kakogawa West-City Hospital, 384-1 Hiratsu, Yoneda-cho, Kakogawa, Hyogo 675-8611, Japan.
Seizure (impact factor: 1.8). 08/2011; 21(1):55-60. DOI:10.1016/j.seizure.2011.07.013 pp.55-60
Source: PubMed

ABSTRACT We report two individual cases of cardio-facio-cutaneous (CFC) syndrome with severe neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory epilepsy with multifocal epileptic paroxysms such as modified hypsarrhythmia. Both cases shared diffuse brain atrophy and severely delayed myelination on neuroimaging. Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome). Neurological impairment in cases with mutations in the RAS/MAPK (mitogen activated protein kinase) signal pathway may be more severe, and could be linked to some forms of refractory epilepsy, especially epileptic encephalopathy that includes infantile spasms.

0 0
 · 
0 Bookmarks
 · 
37 Views
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

BRAF genes
 
cases
 
CFC syndrome
 
CFC/Noonan syndrome
 
diffuse brain atrophy
 
Genetic analysis
 
includes infantile spasms
 
individual heterozygous mutations
 
infantile spasms
 
KRAS
 
mitogen activated protein kinase
 
multifocal epileptic paroxysms
 
myelination
 
neuroimaging
 
Neurological impairment
 
severe neurological impairment
 

Masao Adachi