Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ala Somarowthu"'
Publikováno v:
Cell Reports, Vol 42, Iss 6, Pp 112628- (2023)
Summary: Dravet syndrome (DS) is a severe neurodevelopmental disorder caused by loss-of-function variants in SCN1A, which encodes the voltage-gated sodium channel subunit Nav1.1. We recently showed that neocortical vasoactive intestinal peptide inter
Externí odkaz:
https://doaj.org/article/1fabafc2cc0b49a3906662dc01057aa7
Autor:
Joanna Mattis, Ala Somarowthu, Kevin M Goff, Evan Jiang, Jina Yom, Nathaniel Sotuyo, Laura M Mcgarry, Huijie Feng, Keisuke Kaneko, Ethan M Goldberg
Publikováno v:
eLife, Vol 11 (2022)
Dravet syndrome (DS) is a neurodevelopmental disorder due to pathogenic variants in SCN1A encoding the Nav1.1 sodium channel subunit, characterized by treatment-resistant epilepsy, temperature-sensitive seizures, developmental delay/intellectual disa
Externí odkaz:
https://doaj.org/article/31cb96e7bcb84203b9d4601d65b25be7
Autor:
Jérôme Clatot, Shridhar Parthasarathy, Stacey Cohen, Jillian L. McKee, Shavonne Massey, Ala Somarowthu, Ethan M. Goldberg, Ingo Helbig
Publikováno v:
Epilepsia. 64:1318-1330
Loss-of-function variants in SCN1A cause Dravet syndrome, the most common genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence suggests separate entities of SCN1A-related disorders due to gain-of-function variants. Her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aab1a1d01cae183084a387a674da5cf
https://doi.org/10.1111/epi.17444
https://doi.org/10.1111/epi.17444
Autor:
Jérôme Clatot, Shridhar Parthasarathy, Stacey Cohen, Jillian McKee, Shavonne Massey, Ala Somarowthu, Ethan M. Goldberg, Ingo Helbig
ObjectiveLoss-of-function variants in SCN1A cause Dravet Syndrome, the most common genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence suggests separate entities of SCN1A-related disorders due to gain-of-function vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86cdeaabb441057798caefb51303cefe
https://doi.org/10.1101/2022.06.29.498154
https://doi.org/10.1101/2022.06.29.498154
Autor:
Conny H. Tran, Johan Nakuci, Michael Vaiana, Kevin M Goff, Ala Somarowthu, Sarah F. Muldoon, Priya Murthy, Ethan M. Goldberg, Nitsan Goldstein
Publikováno v:
J Neurosci
Recurrent seizures, which define epilepsy, are transient abnormalities in the electrical activity of the brain. The mechanistic basis of seizure initiation, and the contribution of defined neuronal subtypes to seizure pathophysiology, remains poorly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3244cfe9e5c09f7dc7215794a81f93b5
https://doi.org/10.1523/jneurosci.2370-19.2020
https://doi.org/10.1523/jneurosci.2370-19.2020
Autor:
Yom J, Mcgarry Lm, Feng H, Joanna Mattis, Kaneko K, Kevin M Goff, Ala Somarowthu, Nathaniel Sotuyo, Ethan M. Goldberg
Publikováno v:
eLife. 11
Dravet syndrome (DS) is a neurodevelopmental disorder due to pathogenic variants in SCN1A encoding the Nav1.1 sodium channel subunit, characterized by treatment-resistant epilepsy, temperature-sensitive seizures, developmental delay/intellectual disa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6964e59f149c5ebcbd90deaa37c3ca9
https://doi.org/10.7554/elife.69293
https://doi.org/10.7554/elife.69293
Autor:
Joanna Mattis, Ala Somarowthu, Kevin M Goff, Evan Jiang, Jina Yom, Nathaniel Sotuyo, Laura M Mcgarry, Huijie Feng, Keisuke Kaneko, Ethan M Goldberg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::515995690b0a7540d215636b5d868336
https://doi.org/10.7554/elife.69293.sa2
https://doi.org/10.7554/elife.69293.sa2
Autor:
Kevin M Goff, Tim P. Vogels, Keisuke Kaneko, Ala Somarowthu, Ethan M. Goldberg, Christopher B. Currin
Publikováno v:
bioRxiv
Submitted to review, currently a pre
Submitted to review, currently a pre
Dravet syndrome (DS) is a neurodevelopmental disorder defined by epilepsy, intellectual disability, and sudden death, due to heterozygous variants in SCN1A with loss of function of the sodium channel subunit Nav1.1. Nav1.1-expressing parvalbumin GABA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9a9bf9b069ad962f41306e65d0a3b04
https://doi.org/10.1101/2021.07.28.454042
https://doi.org/10.1101/2021.07.28.454042
Autor:
Keisuke Kaneko, Christopher B. Currin, Kevin M. Goff, Eric R. Wengert, Ala Somarowthu, Tim P. Vogels, Ethan M. Goldberg
Publikováno v:
Cell reports. 38(13)
Dravet syndrome is a neurodevelopmental disorder characterized by epilepsy, intellectual disability, and sudden death due to pathogenic variants in SCN1A with loss of function of the sodium channel subunit Nav1.1. Nav1.1-expressing parvalbumin GABAer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9960605095e4230eebbf3e9495d54ca9
https://pubmed.ncbi.nlm.nih.gov/35354025
https://pubmed.ncbi.nlm.nih.gov/35354025
Autor:
Ala Somarowthu, Ethan M. Goldberg
Publikováno v:
Epilepsy Currents
Layer- and Cell-Specific Recruitment Dynamics During Epileptic Seizures In Vivo Aeed F, Shnitzer T, Talmon R, Schiller Y. Ann Neurol. 2020;87(1):97-115. doi:10.1002/ana.25628Objective:To investigate the network dynamics mechanisms underlying differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907d0e84700398d17849f5de3e6c8b3c
https://doi.org/10.1177/1535759720941023
https://doi.org/10.1177/1535759720941023