Pages that link to "Q35906678"
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The following pages link to Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. (Q35906678):
Displaying 50 items.
- Migraine in the era of precision medicine (Q26748947) (← links)
- The clinical and genetic heterogeneity of paroxysmal dyskinesias (Q26776399) (← links)
- Genetics in dystonia: an update (Q26866453) (← links)
- Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene (Q27312402) (← links)
- Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis (Q28258120) (← links)
- A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE. (Q30090177) (← links)
- The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations. (Q30362390) (← links)
- PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. (Q30528873) (← links)
- PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine (Q30528874) (← links)
- Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder (Q30840162) (← links)
- The genetic relationship between epilepsy and hemiplegic migraine (Q33621149) (← links)
- Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series (Q33830599) (← links)
- Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations. (Q33900090) (← links)
- Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family (Q33937458) (← links)
- Common DNA methylation alterations in multiple brain regions in autism. (Q34287640) (← links)
- Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation (Q34320989) (← links)
- PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort (Q34368721) (← links)
- Phenotypic characterisation of canine epileptoid cramping syndrome in the Border terrier (Q34394585) (← links)
- Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. (Q34416651) (← links)
- Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient (Q34606907) (← links)
- PRRT2 mutations are related to febrile seizures in epileptic patients. (Q34835726) (← links)
- Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis (Q35048666) (← links)
- Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis (Q35076345) (← links)
- Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders (Q35110533) (← links)
- PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling (Q35722682) (← links)
- Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance (Q36183820) (← links)
- PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine (Q36439205) (← links)
- PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures (Q36439209) (← links)
- Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. (Q36503334) (← links)
- Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia. (Q36529186) (← links)
- Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family (Q36646129) (← links)
- Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients (Q36856534) (← links)
- Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies. (Q37398107) (← links)
- PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects (Q37457457) (← links)
- Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells (Q37619800) (← links)
- A mononucleotide repeat in PRRT2 is an important, frequent target of mismatch repair deficiency in cancer. (Q37701535) (← links)
- Genomic biomarkers of SUDEP in brain and heart (Q37707209) (← links)
- Epilepsy in 2012: Advances in epilepsy shed light on key questions (Q38072300) (← links)
- PRRT2-related disorders: further PKD and ICCA cases and review of the literature (Q38072609) (← links)
- PRRT2 mutations and paroxysmal disorders. (Q38080580) (← links)
- Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective (Q38092689) (← links)
- Genetic issues in the diagnosis of dystonias (Q38099832) (← links)
- Primary and secondary dystonic syndromes: an update (Q38113756) (← links)
- The genetics of dystonia: new twists in an old tale (Q38115272) (← links)
- The molecular biology of genetic-based epilepsies. (Q38128240) (← links)
- Episodic movement disorders: from phenotype to genotype and back (Q38130456) (← links)
- Genetic biomarkers in epilepsy (Q38190879) (← links)
- Recent advances in epilepsy (Q38192945) (← links)
- Epilepsy: old syndromes, new genes (Q38205181) (← links)
- The expanding universe of disorders of the basal ganglia (Q38222396) (← links)