BPAN. We have selected WDR45 to be our Epilepsiome gene of the week. WDR45 was initially identified as the causative gene for a rare phenotype referred to as static encephalopathy with neurodegeneration in adulthood (SENDA), which belongs to a group of neurodegenerative disorders that have accumulation of iron in the CNS as the common feature. In contrast to the narrow and very specific phenotype in most other disorders in this group, the phenotypic spectrum of WDR45 has expanded significantly since the initial discovery in 2013. Mutation in WDR45 can be identified in patients with a broad range of neurodevelopmental phenotypes including epileptic encephalopathies. Continue reading
Monthly Archives: November 2015
Glut1 deficiency and Myoclonic Astatic Epilepsy – reassessed
Ketogenic. Several patients with Myoclonic Astatic Epilepsy (MAE) have a surprisingly positive response to the ketogenic diet, even after failing several antiepileptic medications. Given this observation, it is obvious to assume that SCL2A1 mutations play a significant role in MAE, and some earlier studies seemed to suggest that up to 5% of MAE patients carry SLC2A1 mutations. However, in a recent study, we failed to demonstrate a connection between SLC2A1 mutations and Myoclonic Astatic Epilepsy (MAE) in a large cohort of patients. Read more on why the genetics of MAE is an ongoing mystery and why we need a new approach to “keto-genetics”. Continue reading
Epilepsy Blog Relay 2015: Five things to know about epilepsy and genes
Epilepsy Awareness Month. Today, we have contributed a guest post to this November’s Epilepsy Blog Relay on livingwellwithepilepsy.com. Here are the five things about epilepsy and genes that may be interesting for people with epilepsy to know. Click here.
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CACNA1H – this is what you need to know in 2015
Evidence. This week, we will review the evidence that links CACNA1H to human epilepsies. While this gene was initially considered a promising candidate for absence epilepsies, more recent studies have produced little supportive evidence that CACNA1H is linked to human epilepsies. However, CACNA1H may play a role in a different group of diseases, namely early-onset hypertension due to primary aldosteronism. Let’s review what it takes to be candidate gene. Continue reading
Weekly updates – BRAT1, NPRL2 and NPRL3, PIK3R2
Issue 17/2015. This week, we discuss three recent publications on a rare cause of severe infantile epileptic encephalopathies, two novel candidate genes for focal epilepsies, and a novel genetic cause for one of the most common brain malformations in humans. Continue reading
GRIN2A – this is what you need to know in 2015
GRIN2A. Mutations in GRIN2A have initially been described in patients with neurodevelopmental disorders of diverse severity, including seizures, in 2010. In 2013, its prominent role in idiopathic focal epilepsies (IFE) was discovered simultaneously by three groups (Carvill 2013, Lemke 2013, Lesca 2013) and since that, mutations have repeatedly been associated with this spectrum of disorders. Continue reading
