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10.1212/WNL.0000000000004152 http://scihub22266oqcxt.onion/10.1212/WNL.0000000000004152 C5574673!5574673!28667181     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Neurology 2017 ; 89 (4): 385-94 Nephropedia Template TP {{tp|p=28667181|t=2017. DNM1 encephalopathy: A new disease of vesicle fission |pdf=|usr=}}{{28667181}} gab.com Text DNM1 encephalopathy: A new disease of vesicle fission JO: Neurology http://www.kidney.de/pget.php?&tw=1&pmid=28667181 #FOAvip Objective:: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. Methods:: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function. Results:: We identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function. Conclusions:: The phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention. Twit Text FOAVip DNM1 encephalopathy: A new disease of vesicle fission ????Neurology http://www.kidney.de/pget.php?&tw=1&pmid=28667181 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28667181 #FOAvip English Wikipedia <ref>{{Cite pmid|28667181}}</ref> DNM1 encephalopathy: A new disease of vesicle fission #MMPMID28667181 von Spiczak S; Helbig KL; Shinde DN; Huether R; Pendziwiat M; Lourenço C; Nunes ME; Sarco DP; Kaplan RA; Dlugos DJ; Kirsch H; Slavotinek A; Cilio MR; Cervenka MC; Cohen JS; McClellan R; Fatemi A; Yuen A; Sagawa Y; Littlejohn R; McLean SD; Hernandez-Hernandez L; Maher B; Møller RS; Palmer E; Lawson JA; Campbell CA; Joshi CN; Kolbe DL; Hollingsworth G; Neubauer BA; Muhle H; Stephani U; Scheffer IE; Pena SD; Sisodiya SM; Helbig I Neurology 2017[Jul]; 89 (4): 385-94 PMID28667181show ga Objective:: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. Methods:: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function. Results:: We identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function. Conclusions:: The phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention. äDNM1 encephalopathy: A new disease of vesicle fission (epmc).pdf DeepDyve Pubget Overpricing