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Paper Details

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Ann Clin Transl Neurol
0
2023
L-serine, L86_M88dup, N, SLC1A4, amino acid, astrocytes, autosomal dominant epilepsy syndrome, epilepsy, global developmental delay, microcephaly, neurons, patient, progressive microcephaly (SPATCCM) syndrome, spastic tetraplegia, spasticity, thin corpus callosum, three amino acid duplication, trimeric neutral amino acid transporter
Author NameAffiliation
Ghayda M MirzaaCenter for Integrative Brain Research, Seattle Children's Research Institute
Ghayda M MirzaaUniversity of Washington
Ghayda M MirzaaBrotman Baty Institute for Precision Medicine
Dan DohertyUniversity of Washington
Dan DohertyBrotman Baty Institute for Precision Medicine
Martha Horike-PyneUniversity of Washington, Institute of Public Health Genetics
Kathleen A LeppigKaiser Permanente Washington
Wendy H RaskindUniversity of Washington, Institute of Public Health Genetics
Elisabeth A RosenthalUniversity of Washington, Institute of Public Health Genetics
Elisabeth A RosenthalUniversity of Washington, Institute of Public Health Genetics
Andrew E TimmsCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute
Michael J BamshadUniversity of Washington
Michael J BamshadBrotman Baty Institute for Precision Medicine
Michael J BamshadUniversity of Washington
Michael J BamshadBrotman Baty Institute for Precision Medicine
Fuki M HisamaBrotman Baty Institute for Precision Medicine
Fuki M HisamaUniversity of Washington, Institute of Public Health Genetics
Gail P JarvikBrotman Baty Institute for Precision Medicine
Gail P JarvikUniversity of Washington School of Medicine
Gail P JarvikUniversity of Washington, Institute of Public Health Genetics
Gail P JarvikBrotman Baty Institute for Precision Medicine
Gail P JarvikUniversity of Washington, Institute of Public Health Genetics
Gail P JarvikUniversity of Washington School of Medicine
Andrew B StergachisBrotman Baty Institute for Precision Medicine
Andrew B StergachisUniversity of Washington, Institute of Public Health Genetics
Andrew B StergachisUniversity of Washington School of Medicine
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