Miriam Döcker
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View article: The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy
The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy Open
Machado–Joseph disease (MJD) is an autosomal dominant neurodegenerative spinocerebellar ataxia caused by a polyglutamine-coding CAG repeat expansion in the ATXN3 gene. While the CAG length correlates negatively with the age at onset, it ac…
View article: Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories Open
Background Epilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic diseases. However, epilepsy can also be the only disease-determining symptom…
View article: Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Open
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously repor…
View article: The second report of a new hypomyelinating disease due to a defect in the <i>VPS11</i> gene discloses a massive lysosomal involvement
The second report of a new hypomyelinating disease due to a defect in the <i>VPS11</i> gene discloses a massive lysosomal involvement Open
Vesicular protein sorting‐associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome‐lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VP…
View article: Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures Open
Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alteration…