No description
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2015 (v1)PublicationUploaded on: May 13, 2023
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2016 (v1)Publication
Objective: To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations. Methods: Patients with GABRA1 mutations were ascertained through an international collaboration. Clinical, EEG, and genetic data were collected. Functional analysis of 4 selected mutations was performed using...
Uploaded on: April 14, 2023 -
2015 (v1)Publication
No description
Uploaded on: May 13, 2023 -
2016 (v1)Publication
Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent...
Uploaded on: March 27, 2023 -
2016 (v1)Publication
Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation.
Uploaded on: April 14, 2023