Anne Polvi
Helsinki, Finland
Last Updated: 09/26/2026
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Found 11 publications
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Journal: American journal of medical genetics. Part A
Published: February 01, 2019
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
Journal: The Lancet. Neurology
Published: August 02, 2017
Leukoencephalopathy, cerebral calcifications and cysts: a family study.
Journal: Journal of neurology
Published: April 19, 2014
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
Journal: Epilepsia
Published: May 21, 2013
The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.
Journal: Human mutation
Published: March 10, 2013
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Journal: Journal of neurology
Published: September 03, 2012
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia.
Journal: Bone marrow transplantation
Published: June 19, 2012
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Journal: Neurology
Published: January 28, 2012
Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3.
Journal: Neurology
Published: January 06, 2012
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Journal: American journal of human genetics
Published: December 12, 2011
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Last Updated: 09/26/2026