Faculty Opinions recommendation of De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

2016 ◽  
Author(s):  
Rod Scott
Keyword(s):  
Synaptic Transmission ◽  
De Novo ◽  
De Novo Mutations ◽  
Epileptic Encephalopathies

scholarly journals De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

2014 ◽  
Vol 95 (4) ◽  
pp. 360-370 ◽  
Author(s):  
Silke Appenzeller ◽  
Rudi Balling ◽  
Nina Barisic ◽  
Stéphanie Baulac ◽  
Hande Caglayan ◽  
...  
Keyword(s):  
Synaptic Transmission ◽  
De Novo ◽  
De Novo Mutations ◽  
Epileptic Encephalopathies

scholarly journals De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

2017 ◽  
Vol 100 (1) ◽  
pp. 179 ◽  
Author(s):  
Silke Appenzeller ◽  
Rudi Balling ◽  
Nina Barisic ◽  
Stéphanie Baulac ◽  
Hande Caglayan ◽  
...  
Keyword(s):  
Synaptic Transmission ◽  
De Novo ◽  
De Novo Mutations ◽  
Epileptic Encephalopathies

scholarly journals De novo mutations in epileptic encephalopathies

Nature ◽  
2013 ◽  
Vol 501 (7466) ◽  
pp. 217-221 ◽  
Author(s):  
◽  
Keyword(s):  
De Novo ◽  
De Novo Mutations ◽  
Epileptic Encephalopathies

scholarly journals Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice

2015 ◽  
Vol 73 (11) ◽  
pp. 946-958 ◽  
Author(s):  
Marina C. Gonsales ◽  
Maria Augusta Montenegro ◽  
Camila V. Soler ◽  
Ana Carolina Coan ◽  
Marilisa M. Guerreiro ◽  
...  
Keyword(s):  
Clinical Practice ◽  
De Novo ◽  
Current Knowledge ◽  
Molecular Testing ◽  
De Novo Mutations ◽  
Genetic Characteristics ◽  
Epileptic Encephalopathies ◽  
New Findings ◽  
Recent Developments ◽  
The Impact

Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number of specific genetic characteristics, which will influence the use of molecular testing for clinical purposes. Among these, there are the presence of marked genetic heterogeneity and the high frequency of de novo mutations. Therefore, the main objectives of this review paper are to present and discuss current knowledge regarding i) new genetic findings in CEEs, ii) phenotype-genotype correlations in different forms of CEEs; and, most importantly, iii) the impact of these new findings in clinical practice. Accompanying this text we have included a comprehensive table, containing the list of genes currently known to be involved in the etiology of CEEs.

scholarly journals De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

2016 ◽  
Vol 99 (2) ◽  
pp. 287-298 ◽  
Author(s):  
Candace T. Myers ◽  
Jacinta M. McMahon ◽  
Amy L. Schneider ◽  
Slavé Petrovski ◽  
Andrew S. Allen ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutations ◽  
Epileptic Encephalopathies

scholarly journals High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

2017 ◽  
Vol 101 (5) ◽  
pp. 664-685 ◽  
Author(s):  
Fadi F. Hamdan ◽  
Candace T. Myers ◽  
Patrick Cossette ◽  
Philippe Lemay ◽  
Dan Spiegelman ◽  
...  
Keyword(s):  
De Novo ◽  
High Rate ◽  
De Novo Mutations ◽  
Epileptic Encephalopathies

scholarly journals Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

2013 ◽  
Vol 45 (7) ◽  
pp. 825-830 ◽  
Author(s):  
Gemma L Carvill ◽  
Sinéad B Heavin ◽  
Simone C Yendle ◽  
Jacinta M McMahon ◽  
Brian J O'Roak ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutations ◽  
Epileptic Encephalopathies ◽  
Targeted Resequencing
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