Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1016/j.seizure.2011.07.013 http://scihub22266oqcxt.onion/10.1016/j.seizure.2011.07.013 21871821!ä!21871821 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Seizure 2012 ; 21 (1): 55-60 Nephropedia Template TP {{tp|p=21871821|t=2012. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review |pdf=|usr=}}{{21871821}} gab.com Text Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review JO: Seizure http://www.kidney.de/pget.php?&tw=1&pmid=21871821 #FOAvip 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. Twit Text FOAVip Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review ????Seizure http://www.kidney.de/pget.php?&tw=1&pmid=21871821 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21871821 #FOAvip English Wikipedia <ref>{{Cite pmid|21871821}}</ref> Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review #MMPMID21871821 Adachi M; Abe Y; Aoki Y; Matsubara Y Seizure 2012[Jan]; 21 (1): 55-60 PMID21871821show ga 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. |Atrophy[MESH] |Brain Diseases/etiology/physiopathology[MESH] |Child, Preschool[MESH] |Ectodermal Dysplasia/*complications/*genetics/physiopathology[MESH] |Epilepsy/*etiology/physiopathology[MESH] |Facies[MESH] |Failure to Thrive/*complications/*genetics/physiopathology[MESH] |Female[MESH] |Heart Defects, Congenital/*complications/*genetics/physiopathology[MESH] |Humans[MESH] |Infant, Newborn[MESH] |Male[MESH] |Proto-Oncogene Proteins B-raf/*genetics[MESH] |Proto-Oncogene Proteins p21(ras)[MESH] |Proto-Oncogene Proteins/*genetics[MESH] |Signal Transduction/physiology[MESH]Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syn(epmc).pdf DeepDyve Pubget Overpricing