DDD. On January 25, the most recent publication of the Deciphering Developmental Disorders (DDD) study appeared online in Nature. This unprecedented study analyzed the data of 4,293 patient-parent trios with existing data from 3,287 published trios to identify de novo mutations in neurodevelopmental disorders. A study of this size has many aspects that are difficult […]
DDD. It’s probably the most impressive of all exome sequencing studies of 2014 and I almost missed it. Late December last year, the Deciphering Developmental Disorders study was published in Nature, reporting the genetic findings in more than 1,000 patient-parent trios, which were collected in a systematic nation-wide approach in the United Kingdom and Ireland. […]
NDD. Family-based (trio) exome sequencing has become the standardized method for identifying genetic etiologies that cause neurodevelopmental disorders. De novo variants have been responsible for the majority of pathogenic genetic findings, although the landscape of genetic disorders overall is highly heterogeneous. In a recently published study, the authors assessed variant classification to identify new molecular […]
STXBP1. This is the Epilepsiome page for STXBP1, one of the most common genetic etiologies for epilepsy and neurodevelopmental disorders. While STXBP1 was implicated in human disease in individuals with Ohtahara Syndrome in 2008, the phenotypic spectrum has greatly expanded and is recognized as a prominent gene for epileptic encephalopathies with clinical features including but not limited […]
SCN2A. This is the Epilepsiome page for SCN2A, one of the most common genetic causes for neurodevelopmental disorders, including epileptic encephalopathies. The phenotypic spectrum ranges from self-limited neonatal/infantile seizures (formerly known as benign neonatal/infantile seizures), to autism/intellectual disability/schizophrenia, infantile spasms, severe early-onset epileptic encephalopathies, and episodic ataxia.
800 years. The discovery of SCN1B as a causative gene for Genetic Epilepsy with Febrile Seizures Plus (GEFS+) was one of the most pivotal moments in epilepsy genetics. This discovery not only shaped our understanding of the channelopathy concept, but also highlighted the importance of careful phenotyping. Therefore, it may be surprising that SCN1B took […]
2022. In December, our blog passed an important milestone – one million views. Given that Beyond the Ion Channel is a niche blog on epilepsy genetics and pediatric neurogenetics, this is a milestone that we are proud of. In the current post, we would like to examine some of the trends on what people read […]
PURA. The title of this blog, Beyond the Ion Channel, is intended to reflect the wide variety of genes that can cause epilepsy and related neurodevelopmental conditions. Our last post on CACNA1A brought us back to channelopathies, so this blog post will again shift our focus. This post will introduce the new gene page for […]
The exome decade. Last week, I accidentally looked back at our past blog posts. Exactly 10 years ago, we wrote about the discovery of ATP1A3 as the cause of Alternating Hemiplegia of Childhood (AHC). Quite a lot has happened since then in epilepsy genetics, including the discovery of at least twenty additional genes, initial clinical […]
X-linked. Almost a decade ago, the former EuroEPINOMICS team was asked to perform a difficult task. We reviewed inherited variants in X-linked genes, trying to understand whether inherited variants are causative of neurodevelopmental disorders for one of our research studies. In most cases, we decided that we did not have enough evidence. How could we […]
