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10.1016/j.braindev.2010.03.008 http://scihub22266oqcxt.onion/10.1016/j.braindev.2010.03.008 20395089!ä!20395089 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Brain+Dev 2011 ; 33 (2): 166-9 Nephropedia Template TP {{tp|p=20395089|t=2011. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination |pdf=|usr=}}{{20395089}} gab.com Text Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination JO: Brain Dev http://www.kidney.de/pget.php?&tw=1&pmid=20395089 #FOAvip 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 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination. Twit Text FOAVip Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination ????Brain Dev http://www.kidney.de/pget.php?&tw=1&pmid=20395089 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20395089 #FOAvip English Wikipedia <ref>{{Cite pmid|20395089}}</ref> Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination #MMPMID20395089 Aizaki K; Sugai K; Saito Y; Nakagawa E; Sasaki M; Aoki Y; Matsubara Y Brain Dev 2011[Feb]; 33 (2): 166-9 PMID20395089show ga 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 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination. |Brain/growth & development/*pathology[MESH] |Developmental Disabilities/complications/diagnosis/genetics[MESH] |Ectodermal Dysplasia/complications/genetics[MESH] |Facies[MESH] |Failure to Thrive/complications/genetics[MESH] |Female[MESH] |Heart Defects, Congenital/complications/genetics[MESH] |Humans[MESH] |Infant[MESH] |Magnetic Resonance Imaging/methods[MESH] |Mutation/genetics[MESH] |Proto-Oncogene Proteins B-raf/genetics[MESH] |Seizures/complications/genetics[MESH] |Spasms, Infantile/*complications/genetics[MESH]Cardio-facio-cutaneous syndrome with infantile spasms and delayed myel(epmc).pdf DeepDyve Pubget Overpricing