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The document discusses variants in the GRIN2A and GRIN2B genes. It summarizes findings from studies that analyzed 247 cases with GRIN2A variants and 91 cases with GRIN2B variants. The clinical features and severity of phenotypes associated with variants in these genes and other GRIN genes are compared. The presentation concludes by proposing the creation of a single large shared database for GRIN variants that would be accessible to researchers.

Atención sanitaria

Clinical and genetic spectrum
of GRIN2A and GRIN2B variants
Johannes Lemke
Atlanta
13.09.2019
© Johannes Lemke

2
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

3
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
Konrad Platzer
Vincent Strehlow
Henrike Heyne
Rami Jamra
Team in Leipzig
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

4
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
www.grin-database.de
>100x GRIN1
>250x GRIN2A
>100x GRIN2B
few GRIN2D
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta; www.grin-database.de © Johannes Lemke

5
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
www.grin-database.de
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta; www.grin-database.de © Johannes Lemke

6
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
247 cases with GRIN2A
(Strehlow et al., 2019)
Some variants are unique, some are recurrent
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

7
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
247 cases with GRIN2A
(Strehlow et al., 2019)
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

8
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
247 cases with GRIN2A
(Strehlow et al., 2019)
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

9
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
247 cases with GRIN2A
(Strehlow et al., 2019)
LBD
Membrane
M1
ABD
ATD
M4
M2
M3
This situation is
a bit more
complex…
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

10
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
91 cases with GRIN2B
(Platzer et al., 2017)
GRIN2A
GRIN2B
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

11
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
91 cases with GRIN2B
(Platzer et al., 2017)
Intellectual disability
GRIN1 5% mild 95% profound
GRIN2A 38% normal 20% mild 23% mod-prof
GRIN2B 15% mild 85% mod-prof
GRIN2D 100% profound
Impaired speech
GRIN1 100%
GRIN2A 92%
GRIN2B 100%
GRIN2D 100%
seizures
GRIN1 70% (9% ES)
GRIN2A 88% (2% ES, 55% focal, 10% generalized)
GRIN2B 52% (37% ES)
GRIN2D 100% (100% ES)
Movement disorders
GRIN1 61% (22% OGC)
GRIN2A <10%
GRIN2B 10%
GRIN2D 100%
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

12
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
91 cases with GRIN2B
(Platzer et al., 2017)
MRI findings
GRIN1 58% cortical atrophy some MCD
GRIN2A Rarely cortical atrophy
GRIN2B 9% cortical atrophy 14% MCD
GRIN2D 100% cortical atrophy
Muscular hypotonia
GRIN1 71%
GRIN2A rare
GRIN2B 53%
GRIN2D 100%
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

13
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
91 cases with GRIN2B
(Platzer et al., 2017)
Polymicrogyria + large, dysplastic basal ganglia
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

14
Leipzig
GRIN-DB
GRIN2A
GRIN2B
Outlook
What should we aim for?
ONE big
shared DB
Organised
by any
initiative
Content
revised by
researchers
Accessable
by
researchers
Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

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https://www.hubspot.com/state-of-marketing · Scaling relationships and proving ROI · Social media is the place for search, sales, and service · Authentic influencer partnerships fuel brand growth · The strongest connections happen via call, click, chat, and camera. · Time saved with AI leads to more creative work · Seeking: A single source of truth · TLDR; Get on social, try AI, and align your systems. · More human marketing, powered by robots

2024 State of Marketing Report – by Hubspot

Marius Sescu

ChatGPT is a revolutionary addition to the world since its introduction in 2022. A big shift in the sector of information gathering and processing happened because of this chatbot. What is the story of ChatGPT? How is the bot responding to prompts and generating contents? Swipe through these slides prepared by Expeed Software, a web development company regarding the development and technical intricacies of ChatGPT!

Everything You Need To Know About ChatGPT

Expeed Software

Product Design Trends in 2024 | Teenage Engineerings

Pixeldarts

Mental health has been in the news quite a bit lately. Dozens of U.S. states are currently suing Meta for contributing to the youth mental health crisis by inserting addictive features into their products, while the U.S. Surgeon General is touring the nation to bring awareness to the growing epidemic of loneliness and isolation. The country has endured periods of low national morale, such as in the 1970s when high inflation and the energy crisis worsened public sentiment following the Vietnam War. The current mood, however, feels different. Gallup recently reported that national mental health is at an all-time low, with few bright spots to lift spirits. To better understand how Americans are feeling and their attitudes towards mental health in general, ThinkNow conducted a nationally representative quantitative survey of 1,500 respondents and found some interesting differences among ethnic, age and gender groups. Technology For example, 52% agree that technology and social media have a negative impact on mental health, but when broken out by race, 61% of Whites felt technology had a negative effect, and only 48% of Hispanics thought it did. While technology has helped us keep in touch with friends and family in faraway places, it appears to have degraded our ability to connect in person. Staying connected online is a double-edged sword since the same news feed that brings us pictures of the grandkids and fluffy kittens also feeds us news about the wars in Israel and Ukraine, the dysfunction in Washington, the latest mass shooting and the climate crisis. Hispanics may have a built-in defense against the isolation technology breeds, owing to their large, multigenerational households, strong social support systems, and tendency to use social media to stay connected with relatives abroad. Age and Gender When asked how individuals rate their mental health, men rate it higher than women by 11 percentage points, and Baby Boomers rank it highest at 83%, saying it’s good or excellent vs. 57% of Gen Z saying the same. Gen Z spends the most amount of time on social media, so the notion that social media negatively affects mental health appears to be correlated. Unfortunately, Gen Z is also the generation that’s least comfortable discussing mental health concerns with healthcare professionals. Only 40% of them state they’re comfortable discussing their issues with a professional compared to 60% of Millennials and 65% of Boomers. Race Affects Attitudes As seen in previous research conducted by ThinkNow, Asian Americans lag other groups when it comes to awareness of mental health issues. Twenty-four percent of Asian Americans believe that having a mental health issue is a sign of weakness compared to the 16% average for all groups. Asians are also considerably less likely to be aware of mental health services in their communities (42% vs. 55%) and most likely to seek out information on social media (51% vs. 35%).

How Race, Age and Gender Shape Attitudes Towards Mental Health

ThinkNow

AI Trends in Creative Operations 2024 by Artwork Flow.pdf

marketingartwork

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Skeleton Technologies

PEPSICO Presentation to CAGNY Conference Feb 2024

Neil Kimberley

Content Methodology: A Best Practices Report (Webinar)

contently

How to Prepare For a Successful Job Search for 2024

Albert Qian

A report by thenetworkone and Kurio. The contributing experts and agencies are (in an alphabetical order): Sylwia Rytel, Social Media Supervisor, 180heartbeats + JUNG v MATT (PL), Sharlene Jenner, Vice President - Director of Engagement Strategy, Abelson Taylor (USA), Alex Casanovas, Digital Director, Atrevia (ES), Dora Beilin, Senior Social Strategist, Barrett Hoffher (USA), Min Seo, Campaign Director, Brand New Agency (KR), Deshé M. Gully, Associate Strategist, Day One Agency (USA), Francesca Trevisan, Strategist, Different (IT), Trevor Crossman, CX and Digital Transformation Director; Olivia Hussey, Strategic Planner; Simi Srinarula, Social Media Manager, The Hallway (AUS), James Hebbert, Managing Director, Hylink (CN / UK), Mundy Álvarez, Planning Director; Pedro Rojas, Social Media Manager; Pancho González, CCO, Inbrax (CH), Oana Oprea, Head of Digital Planning, Jam Session Agency (RO), Amy Bottrill, Social Account Director, Launch (UK), Gaby Arriaga, Founder, Leonardo1452 (MX), Shantesh S Row, Creative Director, Liwa (UAE), Rajesh Mehta, Chief Strategy Officer; Dhruv Gaur, Digital Planning Lead; Leonie Mergulhao, Account Supervisor - Social Media & PR, Medulla (IN), Aurelija Plioplytė, Head of Digital & Social, Not Perfect (LI), Daiana Khaidargaliyeva, Account Manager, Osaka Labs (UK / USA), Stefanie Söhnchen, Vice President Digital, PIABO Communications (DE), Elisabeth Winiartati, Managing Consultant, Head of Global Integrated Communications; Lydia Aprina, Account Manager, Integrated Marketing and Communications; Nita Prabowo, Account Manager, Integrated Marketing and Communications; Okhi, Web Developer, PNTR Group (ID), Kei Obusan, Insights Director; Daffi Ranandi, Insights Manager, Radarr (SG), Gautam Reghunath, Co-founder & CEO, Talented (IN), Donagh Humphreys, Head of Social and Digital Innovation, THINKHOUSE (IRE), Sarah Yim, Strategy Director, Zulu Alpha Kilo (CA).

Social Media Marketing Trends 2024 // The Global Indie Insights

Kurio // The Social Media Age(ncy)

The search marketing landscape is evolving rapidly with new technologies, and professionals, like you, rely on innovative paid search strategies to meet changing demands. It’s important that you’re ready to implement new strategies in 2024. Check this out and learn the top trends in paid search advertising that are expected to gain traction, so you can drive higher ROI more efficiently in 2024. You’ll learn: - The latest trends in AI and automation, and what this means for an evolving paid search ecosystem. - New developments in privacy and data regulation. - Emerging ad formats that are expected to make an impact next year. Watch Sreekant Lanka from iQuanti and Irina Klein from OneMain Financial as they dive into the future of paid search and explore the trends, strategies, and technologies that will shape the search marketing landscape. If you’re looking to assess your paid search strategy and design an industry-aligned plan for 2024, then this webinar is for you.

Trends In Paid Search: Navigating The Digital Landscape In 2024

Search Engine Journal

From their humble beginnings in 1984, TED has grown into the world’s most powerful amplifier for speakers and thought-leaders to share their ideas. They have over 2,400 filmed talks (not including the 30,000+ TEDx videos) freely available online, and have hosted over 17,500 events around the world. With over one billion views in a year, it’s no wonder that so many speakers are looking to TED for ideas on how to share their message more effectively. The article “5 Public-Speaking Tips TED Gives Its Speakers”, by Carmine Gallo for Forbes, gives speakers five practical ways to connect with their audience, and effectively share their ideas on stage. Whether you are gearing up to get on a TED stage yourself, or just want to master the skills that so many of their speakers possess, these tips and quotes from Chris Anderson, the TED Talks Curator, will encourage you to make the most impactful impression on your audience. See the full article and more summaries like this on SpeakerHub here: https://speakerhub.com/blog/5-presentation-tips-ted-gives-its-speakers See the original article on Forbes here: http://www.forbes.com/forbes/welcome/?toURL=http://www.forbes.com/sites/carminegallo/2016/05/06/5-public-speaking-tips-ted-gives-its-speakers/&refURL=&referrer=#5c07a8221d9b

5 Public speaking tips from TED - Visualized summary

SpeakerHub

Everyone is in agreement that ChatGPT (and other generative AI tools) will shape the future of work. Yet there is little consensus on exactly how, when, and to what extent this technology will change our world. Businesses that extract maximum value from ChatGPT will use it as a collaborative tool for everything from brainstorming to technical maintenance. For individuals, now is the time to pinpoint the skills the future professional will need to thrive in the AI age. Check out this presentation to understand what ChatGPT is, how it will shape the future of work, and how you can prepare to take advantage.

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5 Public speaking tips from TED - Visualized summary

ChatGPT and the Future of Work - Clark Boyd

Getting into the tech field. what next

Google's Just Not That Into You: Understanding Core Updates & Search Intent

How to have difficult conversations

Introduction to Data Science

Time Management & Productivity - Best Practices

The six step guide to practical project management

Beginners Guide to TikTok for Search - Rachel Pearson - We are Tilt __ Bright...

CFERV 2019 Lemke

2. 2 Leipzig GRIN-DB GRIN2A GRIN2B Outlook Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

3. 3 Leipzig GRIN-DB GRIN2A GRIN2B Outlook Konrad Platzer Vincent Strehlow Henrike Heyne Rami Jamra Team in Leipzig Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

4. 4 Leipzig GRIN-DB GRIN2A GRIN2B Outlook www.grin-database.de >100x GRIN1 >250x GRIN2A >100x GRIN2B few GRIN2D Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta; www.grin-database.de © Johannes Lemke

5. 5 Leipzig GRIN-DB GRIN2A GRIN2B Outlook www.grin-database.de Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta; www.grin-database.de © Johannes Lemke

6. 6 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 247 cases with GRIN2A (Strehlow et al., 2019) Some variants are unique, some are recurrent Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

7. 7 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 247 cases with GRIN2A (Strehlow et al., 2019) Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

8. 8 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 247 cases with GRIN2A (Strehlow et al., 2019) Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

9. 9 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 247 cases with GRIN2A (Strehlow et al., 2019) LBD Membrane M1 ABD ATD M4 M2 M3 This situation is a bit more complex… Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

10. 10 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 91 cases with GRIN2B (Platzer et al., 2017) GRIN2A GRIN2B Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

11. 11 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 91 cases with GRIN2B (Platzer et al., 2017) Intellectual disability GRIN1 5% mild 95% profound GRIN2A 38% normal 20% mild 23% mod-prof GRIN2B 15% mild 85% mod-prof GRIN2D 100% profound Impaired speech GRIN1 100% GRIN2A 92% GRIN2B 100% GRIN2D 100% seizures GRIN1 70% (9% ES) GRIN2A 88% (2% ES, 55% focal, 10% generalized) GRIN2B 52% (37% ES) GRIN2D 100% (100% ES) Movement disorders GRIN1 61% (22% OGC) GRIN2A <10% GRIN2B 10% GRIN2D 100% Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

12. 12 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 91 cases with GRIN2B (Platzer et al., 2017) MRI findings GRIN1 58% cortical atrophy some MCD GRIN2A Rarely cortical atrophy GRIN2B 9% cortical atrophy 14% MCD GRIN2D 100% cortical atrophy Muscular hypotonia GRIN1 71% GRIN2A rare GRIN2B 53% GRIN2D 100% Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

13. 13 Leipzig GRIN-DB GRIN2A GRIN2B Outlook 91 cases with GRIN2B (Platzer et al., 2017) Polymicrogyria + large, dysplastic basal ganglia Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

14. 14 Leipzig GRIN-DB GRIN2A GRIN2B Outlook What should we aim for? ONE big shared DB Organised by any initiative Content revised by researchers Accessable by researchers Johannes Lemke, 13.09.2019, CFERV Conference on GRIN variants, Atlanta © Johannes Lemke

CFERV 2019 Lemke

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