[HTML][HTML] Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
DI Battaglia, ML Gambardella, S Veltri, I Contaldo…�- Genes, 2021 - mdpi.com
Objective: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused
by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK)�…
by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK)�…
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype
DL Kenney‐Jung, DJ Rogers…�- American Journal of�…, 2022 - Wiley Online Library
Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause
cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic�…
cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic�…
[HTML][HTML] Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study
EI Pierpont, DL Kenney-Jung, R Shanley, AL Zatkalik…�- Genetics in�…, 2022 - Elsevier
Purpose Dysregulation of RAS or its major effector pathway is the molecular mechanism of
RASopathies, a group of multisystemic congenital disorders. Neurologic complications are�…
RASopathies, a group of multisystemic congenital disorders. Neurologic complications are�…
Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case–control study�…
R Calandrelli, F Pilato, M Panfili, D Battaglia…�- Neuroradiology, 2022 - Springer
Purpose To evaluate the brain volumetric changes caused by BRAF gene mutation in non-
epileptic CFC patients and the influence of the age of epilepsy onset on brain development�…
epileptic CFC patients and the influence of the age of epilepsy onset on brain development�…
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
K Aizaki, K Sugai, Y Saito, E Nakagawa, M Sasaki…�- Brain and�…, 2011 - Elsevier
A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.
1454T→ C, p. L485S) experienced repetitive epileptic spasms at the corrected age of�…
1454T→ C, p. L485S) experienced repetitive epileptic spasms at the corrected age of�…
Mutant BRAF in low‐grade epilepsy‐associated tumors and focal cortical dysplasia
BRAF alterations, namely BRAF fusion and BRAF V600E mutation, have been recently
reported in low‐grade epilepsy‐associated tumors. Twenty low‐grade epilepsy‐associated�…
reported in low‐grade epilepsy‐associated tumors. Twenty low‐grade epilepsy‐associated�…
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel�…
E Ciara, M Pelc, D Jurkiewicz, M Kugaudo…�- European journal of�…, 2015 - Elsevier
Abstract Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of
developmental delay and congenital anomalies, including characteristic facial, cardiac, and�…
developmental delay and congenital anomalies, including characteristic facial, cardiac, and�…
[HTML][HTML] Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
B Feng, X Li, Q Zhang, Y Wang, S Gu, R Yao…�- Orphanet Journal of�…, 2023 - Springer
Background Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents
with unique craniofacial dysmorphology, congenital heart disease, dermatologic�…
with unique craniofacial dysmorphology, congenital heart disease, dermatologic�…
[HTML][HTML] Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review
M Adachi, Y Abe, Y Aoki, Y Matsubara�- Seizure, 2012 - Elsevier
We report two individual cases of cardio-facio-cutaneous (CFC) syndrome with severe
neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory�…
neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory�…
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy
L Pezzani, D Marchetti, A Cereda…�- American Journal of�…, 2018 - Wiley Online Library
We report a 9‐year‐old girl with hypotonia, severe motor delay, absent speech, and facial
dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio�…
dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio�…