共 164 条
[11]
Genetic Basis of Sudden Unexpected Death in Epilepsy
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Bagnall, Richard D.
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Crompton, Douglas E.
;
Semsarian, Christopher
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FRONTIERS IN NEUROLOGY,
2017, 8

Bagnall, Richard D.
论文数: 0 引用数: 0
h-index: 0
机构:
Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia

Crompton, Douglas E.
论文数: 0 引用数: 0
h-index: 0
机构:
Northern Hlth, Dept Neurol, Melbourne, Vic, Australia
Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Melbourne, Vic, Australia Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia

Semsarian, Christopher
论文数: 0 引用数: 0
h-index: 0
机构:
Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia
Royal Prince Alfred Hosp, Dept Cardiol, Sydney, NSW, Australia Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia
[12]
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy
[J].
Bai, Yun-Fei
;
Chiu, Michelle
;
Chan, Elizabeth S.
;
Axerio-Cilies, Peter
;
Lu, Jie
;
Huh, Linda
;
Connolly, Mary B.
;
Guella, Ilaria
;
Farrer, Matthew J.
;
Xu, Zhi-Qing David
;
Liu, Lidong
;
Demos, Michelle
;
Wang, Yu Tian
.
MOLECULAR BRAIN,
2019, 12 (01)

Bai, Yun-Fei
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada
Univ British Columbia, Dept Med, Vancouver, BC, Canada
Capital Med Univ, Beijing Inst Brain Disorders, Beijing Key Lab Neural Regenerat & Repair, Dept Neurobiol,Minist Sci & Technol,Beijing Lab B, Beijing, Peoples R China Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Chiu, Michelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, BC Childrens Hosp, Dept Paediat, Dept Neurol, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Chan, Elizabeth S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada
Univ British Columbia, Dept Med, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Axerio-Cilies, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada
Univ British Columbia, Dept Med, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Lu, Jie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada
Univ British Columbia, Dept Med, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Huh, Linda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, BC Childrens Hosp, Dept Paediat, Dept Neurol, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Connolly, Mary B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, BC Childrens Hosp, Dept Paediat, Dept Neurol, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Guella, Ilaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Farrer, Matthew J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC, Canada
Univ Florida, McKnight Brain Inst, Gainesville, FL USA Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

论文数: 引用数:
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Liu, Lidong
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada
Univ British Columbia, Dept Med, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Demos, Michelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, BC Childrens Hosp, Dept Paediat, Dept Neurol, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada

Wang, Yu Tian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada
Univ British Columbia, Dept Med, Vancouver, BC, Canada Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, Vancouver, BC, Canada
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[14]
Pyramidal neurons
[J].
Bekkers, John M.
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CURRENT BIOLOGY,
2011, 21 (24)
:R975-R975

Bekkers, John M.
论文数: 0 引用数: 0
h-index: 0
机构:
Australian Natl Univ, John Curtin Sch Med Res, Canberra, ACT 2601, Australia Australian Natl Univ, John Curtin Sch Med Res, Canberra, ACT 2601, Australia
[15]
A Human Mutation in Gabrg2 Associated with Generalized Epilepsy Alters the Membrane Dynamics of GABAA Receptors
[J].
Bouthour, Walid
;
Leroy, Felix
;
Emmanuelli, Charline
;
Carnaud, Michele
;
Dahan, Maxime
;
Poncer, Jean Christophe
;
Levi, Sabine
.
CEREBRAL CORTEX,
2012, 22 (07)
:1542-1553

Bouthour, Walid
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France
Univ Paris 06, F-75005 Paris, France
Inst Fer Moulin, F-75005 Paris, France INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France

论文数: 引用数:
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Emmanuelli, Charline
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France
Univ Paris 06, F-75005 Paris, France
Inst Fer Moulin, F-75005 Paris, France INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France

Carnaud, Michele
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France
Univ Paris 06, F-75005 Paris, France
Inst Fer Moulin, F-75005 Paris, France INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France

Dahan, Maxime
论文数: 0 引用数: 0
h-index: 0
机构:
Ecole Normale Super, CNRS, Dept Phys, Lab Kastler Brossel,Unite Mixte Rech 8552, F-75005 Paris, France
Ecole Normale Super, Inst Biol, F-75005 Paris, France INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France

Poncer, Jean Christophe
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France
Univ Paris 06, F-75005 Paris, France
Inst Fer Moulin, F-75005 Paris, France INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France

Levi, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France
Univ Paris 06, F-75005 Paris, France
Inst Fer Moulin, F-75005 Paris, France INSERM, Unite Mixte Rech Sante 839, F-75005 Paris, France
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[17]
Extrasynaptic GABAA Receptors: Their Function in the CNS and Implications for Disease
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Brickley, Stephen G.
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Mody, Istvan
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NEURON,
2012, 73 (01)
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Brickley, Stephen G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ London Imperial Coll Sci Technol & Med, Div Cell & Mol Biol, London SW7 2AZ, England Univ London Imperial Coll Sci Technol & Med, Div Cell & Mol Biol, London SW7 2AZ, England

Mody, Istvan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Physiol, Los Angeles, CA 90095 USA Univ London Imperial Coll Sci Technol & Med, Div Cell & Mol Biol, London SW7 2AZ, England
[18]
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
[J].
Brnich, Sarah E.
;
Abou Tayoun, Ahmad N.
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Couch, Fergus J.
;
Cutting, Garry R.
;
Greenblatt, Marc S.
;
Heinen, Christopher D.
;
Kanavy, Dona M.
;
Luo, Xi
;
McNulty, Shannon M.
;
Starita, Lea M.
;
Tavtigian, Sean, V
;
Wright, Matt W.
;
Harrison, Steven M.
;
Biesecker, Leslie G.
;
Berg, Jonathan S.
;
Brenner, Steven E.
;
Ellard, Sian
;
Karbassi, Izabela
;
Karchin, Rachel
;
Mester, Jessica L.
;
O'Donnell-Luria, Anne
;
Pesaran, Tina
;
Plon, Sharon E.
;
Rehm, Heidi
;
Topper, Scott
.
GENOME MEDICINE,
2019, 12 (01)

Brnich, Sarah E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Abou Tayoun, Ahmad N.
论文数: 0 引用数: 0
h-index: 0
机构:
Al Jalila Childrens Specialty Hosp, Gen Dept, Dubai, U Arab Emirates
Al Jalila Childrens Specialty Hosp, Dubai, U Arab Emirates Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Couch, Fergus J.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Cutting, Garry R.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Sch Med, Dept Genet Med, Baltimore, MD USA
Johns Hopkins Univ, Sch Med, Baltimore, MD USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Greenblatt, Marc S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Vermont, Dept Med, Burlington, VT USA
Univ Vermont, Canc Ctr, Lamer Coll Med, Burlington, VT USA
Univ Vermont, Larner Coll Med, Burlington, VT USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Heinen, Christopher D.
论文数: 0 引用数: 0
h-index: 0
机构:
UConn Hlth, Ctr Mol Oncol, Farmington, CT USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Kanavy, Dona M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Luo, Xi
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Pediat Hematol Oncol, Houston, TX 77030 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

McNulty, Shannon M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Starita, Lea M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
Brotman Baty Inst Precis Med, Seattle, WA USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Tavtigian, Sean, V
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Sch Med, Dept Oncol Sci, Salt Lake City, UT USA
Univ Utah, Sch Med, Huntsman Canc Inst, Salt Lake City, UT USA
Univ Utah, Sch Med, Salt Lake City, UT USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Wright, Matt W.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Stanford, CA 94305 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Harrison, Steven M.
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst MIT & Harvard, Cambridge, MA 02142 USA
Broad Inst MIT Harvard, Cambridge, MA USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA
NHGRI, NIH, Bethesda, MD 20892 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Berg, Jonathan S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA
Univ N Carolina, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Brenner, Steven E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Berkeley, Berkeley, CA 94720 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Ellard, Sian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Med Sch, Exeter, Devon, England Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Karbassi, Izabela
论文数: 0 引用数: 0
h-index: 0
机构:
Athena Diagnost, Quest Diagnost, Marlborough, MA USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Karchin, Rachel
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Baltimore, MD USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Mester, Jessica L.
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx Inc, Gaithersburg, MD USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

O'Donnell-Luria, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Boston, MA USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Pesaran, Tina
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Plon, Sharon E.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Houston, TX 77030 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Rehm, Heidi
论文数: 0 引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Boston, MA 02114 USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA

Topper, Scott
论文数: 0 引用数: 0
h-index: 0
机构:
Color Genom, Burlingame, CA USA Univ N Carolina, Dept Genet, 120 Mason Farm Rd, Chapel Hill, NC 27599 USA
[19]
Fundamental Neurochemistry Review: GABAA receptor neurotransmission and epilepsy: Principles, disease mechanisms and pharmacotherapy
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Bryson, Alexander
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Reid, Christopher
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Petrou, Steven
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JOURNAL OF NEUROCHEMISTRY,
2023, 165 (01)
:6-28

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Reid, Christopher
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3052, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3052, Australia

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[20]
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
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Butler, Kameryn M.
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Moody, Olivia A.
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Schuler, Elisabeth
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Coryell, Jason
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Alexander, John J.
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Jenkins, Andrew
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Escayg, Andrew
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BRAIN,
2018, 141
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Butler, Kameryn M.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA
Emory Univ, Genet & Mol Biol Program, Grad Div Biol & Biomed Sci, Laney Grad Sch, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA

Moody, Olivia A.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Dept Anesthesiol, Atlanta, GA 30322 USA
Emory Univ, Dept Pharmacol, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA

Schuler, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Grad Div Biol & Biomed Sci, Laney Grad Sch, Neurosci Program, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA

论文数: 引用数:
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Alexander, John J.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA
EGL Genet, Tucker, GA 30084 USA Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA

Jenkins, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Dept Anesthesiol, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA

Escayg, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA