Papers of the week – SCN1B, ATP1A3, NGLY1, and ontologies

Filling in. As Dennis is current fully engaged in the Helsinki meeting, I am filling in for him to present the most relevant publications in the field published in the last two weeks. This week’s publications were about functional studies, phenotype delineations, and novel gene findings.

The Helsinki harbor at dusk. Unfortunately, I couldn't join the EuroEPINOMICS community in Finland. That's why I went photo shopping on Flickr to get an  impression of what it must be like (used under a Creative Commons Licence from https://www.flickr.com/photos/mariano-mantel/9086263721)

The Helsinki harbor at dusk. Unfortunately, I couldn’t join the EuroEPINOMICS community in Finland. That’s why I went photo shopping on Flickr to get an impression of what it must be like (used under a Creative Commons Licence from https://www.flickr.com/photos/mariano-mantel/9086263721)

SCN1B and Dravet Syndrome. In a functional analysis of homozygous mutant SCN1B mice published in Brain, Reid and collaborators showed that hyperexcitability can be specifically located to subicular neurons and layer 2/3 pyramidal neurons, which also showed decreased arborization. This suggests a novel disease mechanism for epileptic encephalopathies.

Automatic ontologies. Remember our attempts to use ontology-based classification for epilepsies? In a recent publication published in Artificial Intelligence in Medicine, Kassahun and collaborators aim to apply machine learning for epilepsy classification. While there is still a long way to go, this study provides some first ideas on how to go about this.

The two faces of ATP1A3. In a recent publication in Lancet Neurology, Heintzen and collaborators investigate the two phenotypes associated with mutations in ATP1A3: rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood. In fact, mutations appear to be disease-specific.

NGLY1 and alacrimia. Recessive mutations in the NGLY1 gene, published by Enns and collaborators in Genetics in Medicine, result in a particular phenotype with lack of tears (alacrimia), global developmental delay, microcephaly, and epilepsy. The gene product is involved in degradation of proteins in the endoplasmatic reticulum. I mention this paper as I was made aware of this gene by a blog post of a patient father.

LETM1 and Wolf-Hirschhorn Syndrome. The LETM1 gene was suggested as the main candidate gene for the refractory epilepsy frequently seen in Wolf-Hirschhorn Syndrome. A recent study by Zollino and collaborators published in Epilepsia questions this hypothesis and suggests a different candidate region.

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