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Beyond the Ion Channel | The ILAE Genetics Commission Blog

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Beyond the Ion Channel | The ILAE Genetics Commission Blog | epilepsygenetics.net Reviews
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Beyond the Ion Channel | The ILAE Genetics Commission Blog | epilepsygenetics.net Reviews

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The ILAE Genetics Commission Blog

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1

CACNA1A – this is what you need to know | Beyond the Ion Channel

http://epilepsygenetics.net/the-epilepsiome/cacna1a-this-is-what-you-need-to-know

Beyond the Ion Channel. The ILAE Genetics Commission Blog. Sign up for newsletter. CACNA1A – this is what you need to know. This is the Epilepsiome page for. A gene for both a channelopathy and trinucleotide repeat disorder, a gene for early childhood-onset and late onset adult neurological disorders, and a gene responsible for both episodic neurological conditions and neurodegenerative diseases. Here are the most recent blog posts that mention. CACNA1A this is what you need to know in 2015. Familial hem...

2

EpiGC – genetic counseling for patients with epilepsy | Beyond the Ion Channel

http://epilepsygenetics.net/epigc-genetic-counseling-for-patients-with-epilepsy

Beyond the Ion Channel. The ILAE Genetics Commission Blog. Sign up for newsletter. EpiGC genetic counseling for patients with epilepsy. The field of genetics has been revolutionized over the last two decades, from both a research and clinical care perspective. In epilepsy, the impact of new genetic testing technologies has led to a paradigm shift in the way we think about the etiology of disease. Who are genetic counselors? Genetic counselors (GCs) are healthcare professionals with specialized training i...

3

KCNQ2 – this is what you need to know | Beyond the Ion Channel

http://epilepsygenetics.net/the-epilepsiome/kcnq2-this-is-what-you-need-to-know

Beyond the Ion Channel. The ILAE Genetics Commission Blog. Sign up for newsletter. KCNQ2 – this is what you need to know. This is the Epilepsiome page on. An ion channel gene that encodes a subunit of a voltage-gated potassium channel. Known for years as a gene for a familial and self-limiting neonatal epilepsy syndrome, mutations are now also shown to be a frequent cause of neonatal epileptic encephalopathy. Here is what you need to know about. Here are the most recent blog posts on. This syndrome was o...

4

ARX – this is what you need to know | Beyond the Ion Channel

http://epilepsygenetics.net/arx-this-is-what-you-need-to-know

Beyond the Ion Channel. The ILAE Genetics Commission Blog. Sign up for newsletter. ARX – this is what you need to know. This is the epilepsiome page for. Which is associated with a spectrum of overlapping neurological conditions, including X-linked intellectual disability, West syndrome, Partington syndrome, Ohtahara syndrome, Proud syndrome, and X-linked lissencephaly with abnormal genitalia [ OMIM#300382. Here are the most recent blog posts on. Three novel aspects about epilepsy gene panels. May have i...

5

Dynamin 1, the synapse, and why epilepsy gene discovery is now officially over | Beyond the Ion Channel

http://epilepsygenetics.net/2014/09/25/dynamin-1-the-synapse-and-why-epilepsy-gene-discovery-is-now-officially-over

Beyond the Ion Channel. The ILAE Genetics Commission Blog. Sign up for the Channelopathist newsletter. The five critical components of a clinical exome team. The three challenges of epilepsy precision medicine →. Dynamin 1, the synapse, and why epilepsy gene discovery is now officially over. September 25, 2014. By Ingo Helbig (Kiel). Infantile Spasms and Lennox-Gastaut Syndrome are two epilepsy syndromes with a strong genetic component. Just published a joint analysis. In fact, even in moderately large c...

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Commission on Genetics - ILAE

http://www.ilae.org/Commission/genetics/index.cfm

ILAE Takes Important Step in Uncovering the Genetic Underpinnings of Epilepsy. Epilepsy and Genetics: Things you want to know. The Genetics Commission posts regularly to a blog about the genetics of the epilepsies, Beyond the Ion Channel. Read blog here. Familial epilepsies revisited the big picture. February 10, 2016). Five almost forgotten blog posts that are relevant in 2016. February 8, 2016). The 2016 Epilepsiome series. February 4, 2016). Text on this website is available under a.

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Savanna's Journey | Infantile Spasms. Partial Epilepsy. Surgical Treatment. ASD. | Page 2

https://savannalininger.wordpress.com/page/2

Infantile Spasms. Partial Epilepsy. Surgical Treatment. ASD. Skip to primary content. Skip to secondary content. Newer posts →. IS Awareness Week: Luna’s Story. November 7, 2014. She explained the treatment plans in place from her neurologist. She translated documents for review. I advised her how cases like hers are handled here in the USA at a facility familiar with IS, the kind of tests usually ordered and why, and why it is so important to move quickly and accurately with the workup. Two things I lea...

scienceoveracuppa.com scienceoveracuppa.com

The Theory of Evolution, the French Revolution, & Modern American Society | Science Over a Cuppa

https://scienceoveracuppa.com/2015/08/09/the-theory-of-evolution-the-french-revolution-modern-american-society

Science Over a Cuppa. WEEKLY POSTS ON SCIENCY TOPICS. Are You a Scientist? What’s the Story behind the Fossil in the Header? The Theory of Evolution, the French Revolution, and Modern American Society. August 9, 2015. During the height of the French Revolution, about 3,000 Parisian revolutionaries held an entire country (30,000,000 people) hostage. The economic class from which they primarily derived was the up-and-coming educated merchants known as the. Two Treatises of Government. The last term reflect...

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March | 2015 | Science Over a Cuppa

https://scienceoveracuppa.com/2015/03

Science Over a Cuppa. WEEKLY POSTS ON SCIENCY TOPICS. Are You a Scientist? What’s the Story behind the Fossil in the Header? Monthly Archives: March 2015. Do Rare Mutations Play Important Roles in Common Conditions Like Autism? March 29, 2015. The common disease, common variant hypothesis (CD/CV) stated that a few common allelic variants could account for the genetic variance in disease susceptibility, whereas the rare variant (CD/RV) hypothesis stated […]. Read Article →. March 15, 2015. March 8, 2015.

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Psychosis in Autism | Science Over a Cuppa

https://scienceoveracuppa.com/2015/07/26/psychosis-in-autism

Science Over a Cuppa. WEEKLY POSTS ON SCIENCY TOPICS. Are You a Scientist? What’s the Story behind the Fossil in the Header? July 26, 2015. There are certainly cases to the contrary, e.g., Phelan-McDermid Syndrome; rates of schizophrenia appear to be higher in families with autism [2]. And there’s modest overlap of genetic risk factors. However, a recent study by Taylor et al. (2015). Figure #2 from Taylor et al. (2015), showing mean scores on SPEQ subscores. Leave a Reply Cancel reply. Kanner’s El...

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What’s the Story behind the Fossil in the Header? | Science Over a Cuppa

https://scienceoveracuppa.com/whats-the-story-with-the-fossil-in-the-header

Science Over a Cuppa. WEEKLY POSTS ON SCIENCY TOPICS. Are You a Scientist? What’s the Story behind the Fossil in the Header? What’s the Story behind the Fossil in the Header? You can see Mary Anning’s ichthyosaur, alongside many other ichthyosaurs and plesiosaurs that she found in her lifetime, at the London Natural History Museum. Leave a Reply Cancel reply. Enter your comment here. Please log in using one of these methods to post your comment:. Address never made public). Kanner’s Eleven Families.

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Are Sex Differences in Autism Just Normal Sex Differences? | Science Over a Cuppa

https://scienceoveracuppa.com/2015/06/28/are-sex-differences-in-autism-just-normal-sex-differences

Science Over a Cuppa. WEEKLY POSTS ON SCIENCY TOPICS. Are You a Scientist? What’s the Story behind the Fossil in the Header? Are Sex Differences in Autism Just Normal Sex Differences? June 28, 2015. Messinger et al., 2015, p. 2). Building on a related viewpoint, researchers with the. Baby Siblings Research Consortium. Published data suggesting that the Female Protective Effect may actually be reflective of typically occurring sex differences and not something that is specific to autism nor necessarily re...

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Rare Truncating Mutations Linked with Autism | Science Over a Cuppa

https://scienceoveracuppa.com/2015/06/14/rare-truncating-mutations-linked-with-autism

Science Over a Cuppa. WEEKLY POSTS ON SCIENCY TOPICS. Are You a Scientist? What’s the Story behind the Fossil in the Header? Rare Truncating Mutations Linked with Autism. June 14, 2015. Anyways, this week I want to report on a recent article that appeared in. By Krumm et al. (2015). Addressing trends in rare copy number and single nucleotide variants. While I won’t completely summarize the work, the team did report a few interesting findings. Krumm et al. studied genetic trends from the. In the mothers&#...

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Beyond the Ion Channel | The ILAE Genetics Commission Blog

Beyond the Ion Channel. The ILAE Genetics Commission Blog. Sign up for newsletter. Ultra-rare genetic variants in familial epilepsies. February 26, 2017. The last five years have seen enormous progress in understanding the genetic basis of sporadic severe, treatment-resistant epilepsies due to. Are particularly challenging given the sheer amount of variants segregating in small families by chance. In a recent publication. The Focal Epilepsy Conference 2017 an invitation to the Faroe Islands. Are an archi...

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Epilepsy Golf

Skip to main content. Skip to primary sidebar. Skip to secondary sidebar. Epilepsy “Have A Heart”Golf Tournament. Sponsor and Golfer Opportunities. 2018 SA Golf Sponsors. Come May 4, and celebrate with us at the TPC San Antonio golf resort! Treat yourself to great company, exciting contests, and a legendary golf experience, while helping to benefit the vital programs and services at the Epilepsy Foundation Central and South Texas. What to expect: Four person scramble. 7: 00am – Registration opens.

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Epilepsy Seizures New York New Jersey | Northeast Regional Epilepsy Group

Northeast Regional Epilepsy Group. Epilepsy Research in the News. For Health Care Providers. Prepare for a visit. 24/7 direct care from epilepsy specialists many voted Best Doctors of America and America's Top Physicians. We have three Level 4 accredited epilepsy centers. Highest level by the National Association of Epilepsy Centers). Hackensack University Medical Center. White Plains Hospital Center. Over 30,000 patients treated. One of the few. Epilepsy centers with a. Second opinion, out of state.

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