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Primary episodic ataxias: diagnosis, pathogenesis and treatment.
TLDR
This work summarizes current knowledge of clinical and genetic diagnosis, genotype-phenotype correlations, pathophysiology and treatment of episodic ataxia syndromes, and focuses on unresolved issues including phenotypic and genetic heterogeneity.
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
TLDR
A critical review of previously reported EA1 families shows an over-representation of epilepsy in family members with EA1 compared with unaffected members, suggesting that the epilepsy in EA1 may be caused by the dysfunctional potassium channel.
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
TLDR
POLG1 was sequenced in patients from different European diagnostic and research centres to define the phenotypic spectrum and advance understanding of the recurrence risks and identify multiple mutations that can have complex implications for genetic counselling.
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
TLDR
Heterologous expression of the proteins encoded by the mutant KCNA1 genes suggest that the four point mutations impair delayed‐rectifier type potassium currents by different mechanisms, which may be relevant to the new phenotypic observations reported in this study.
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management
TLDR
The phenotypic spectrum associated with the m.3243A>G mtDNA mutation in MTTL1 is defined and guidelines for screening and for the management of confirmed cases are proposed.
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
TLDR
The non-dystrophic myotonias are an important group of skeletal muscle channelopathies electrophysiologically characterized by altered membrane excitability and there are important unresolved issues the authors address.
Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations?
TLDR
Two novel heteroplasmic mitochondrial DNA point mutations in the gene encoding the ND5 subunit of complex I are identified in a patient with MELAS and a 13045A→C transversion in a patients with a M ELAS/Leber's hereditary optic neuropathy/Leigh's overlap syndrome.
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary
TLDR
POLGI was sequenced in patients from different European diagnostic and research centres to define the phenotypic spectrum and advance understanding of the recurrence risks and identify multiple mutations that can have complex implications for genetic counselling.
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