#NPRL3 - Twitter Hashtag

over 1 year ago

One of my proudest moments: The tele precision counseling clinic is OPEN! 🧬8 states, 127 million people & growing 📈↗️ #SCN1A, #SCN2A, #SCN3A, #SCN8A, #CACNA1A, #DEPDC5, #NPRL2, #NPRL3, #GRIN1, #GRIN2A, #GRIN2B, #GRIN2D, #SLC6A1 & 8p disorders. https://t.co/aD8q3FEvyQ

LalDennis's tweet photo. One of my proudest moments: The tele precision counseling clinic is OPEN! 🧬8 states, 127 million people & growing 📈↗️

#SCN1A, #SCN2A, #SCN3A, #SCN8A, #CACNA1A, #DEPDC5, #NPRL2, #NPRL3, #GRIN1, #GRIN2A, #GRIN2B, #GRIN2D, #SLC6A1 & 8p disorders.

https://t.co/aD8q3FEvyQ https://t.co/ypSGSAFTG2

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Epilepsia Open @EpilepsiaOpen

about 3 years ago

Refining the electro-clinical spectrum of NPRL3-related epilepsy: a novel multiplex family and literature review https://t.co/PyMOs8thZG #NPRL3 #epilepsy #focalseizures #frontallobe #focalcorticaldysplasia #FCD #epilepsy #ILAE #OpenAccess @IlaeWeb @epilepsiaopen @WileyNeuro

EpilepsiaOpen's tweet photo. Refining the electro-clinical spectrum of NPRL3-related epilepsy: a novel multiplex family and literature review
https://t.co/PyMOs8thZG

#NPRL3 #epilepsy #focalseizures #frontallobe #focalcorticaldysplasia #FCD #epilepsy #ILAE #OpenAccess @IlaeWeb @epilepsiaopen @WileyNeuro https://t.co/1PWxNsliAR

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Claudia Gonzaga-Jauregui @cgonzagaj

over 4 years ago

Our recent collab paper describes loss of #NPRL3 causes mTOR pathway hyperactivation, abnormal neuronal morphology & altered cortical lamination after genetic analysis id a founder mutation segregating w/variable seizures phenotype is out @Brain1878 @ClinicSpecChild @Iffland_Lab

Brain @Brain1878

over 4 years ago

Iffland et al. present the phenotypic spectrum of a founder NPRL3 pedigree dating back to 1727, and show that NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold. https://t.co/dLaOGeYbOP

Brain1878's tweet photo. Iffland et al. present the phenotypic spectrum of a founder NPRL3 pedigree dating back to 1727, and show that NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold. https://t.co/dLaOGeYbOP https://t.co/0pm5blBNyl

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NPRL3 Gene Duplication/Mutation @NPRL3_Gene

over 5 years ago

A question for the Epilepsy community. In our effort to understand our NPRL3 gene diagnosis link to epilepsy we are trying to read relevant articles about this but many are not public and costly. Do you have a resource that you use to access this info? #NPRL3 #Epilepsy #ATI

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NPRL3 Gene Duplication/Mutation @NPRL3_Gene

over 5 years ago

I am looking for information related to the use of mTOR inhibitors as a treatment for epilepsy. I searched the topic but not sure if there is any newer information from 2020 - present. Any direction would be appreciated. #mTOR #NPRL3

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Epilepsia @EpilepsiaJourn

almost 6 years ago

Transcriptome analysis of a ring chromosome 20 patient cohort https://t.co/jBhA43o30C BRIEF COMMUNICATION #epilepsy #ring20 #NPRL3 @IlaeWeb @wileyneurosci

EpilepsiaJourn's tweet photo. Transcriptome analysis of a ring chromosome 20 patient cohort https://t.co/jBhA43o30C

BRIEF COMMUNICATION #epilepsy #ring20 #NPRL3 @IlaeWeb @wileyneurosci https://t.co/B9yeXAfY2X

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