PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
about
Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE.Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese familyPhenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosisHeterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disordersCopy number variation plays an important role in clinical epilepsy.Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Genetic biomarkers in epilepsy.Recent advances in epilepsy.Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.The evolving spectrum of PRRT2-associated paroxysmal diseases.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.The role of genetic testing in epilepsy diagnosis and management.Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.Thalamic involvement in paroxysmal kinesigenic dyskinesia: a combined structural and diffusion tensor MRI analysis.
P2860
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P2860
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
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type
label
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
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prefLabel
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
@en
P2093
P2860
P50
P1433
P1476
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
@en
P2093
Angela Robbiano
Anna-Kaisa Anttonen
Anne Polvi
Christian Gerloff
Christoph Kellinghaus
Eija Gaily
Elina Liukkonen
Federico Zara
Felicitas Becker
Holger Lerche
P2860
P2888
P304
P356
10.1007/S00415-012-6777-Y
P577
2013-01-09T00:00:00Z
P6179
1011148639