Clinical , genetic , neurophysiological and functional study of new mutations in episodic ataxia type 1 Susan
نویسندگان
چکیده
MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London, UK Institute of Neurology, University College London, London, UK Institute of Clinical Neuroscience, Royal Prince Alfred Hospital, University of Sydney, Sydney, New South Wales, Australia Department of Neurology, St Vincent’s Hospital, Sydney, New South Wales, Australia Department of Neurology, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, New South Wales, Australia
منابع مشابه
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
BACKGROUND AND OBJECTIVE Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia. This paper describes four previously unreported families with EA1, with the aim of understanding the phenotypic spectrum associated with different mutations. METHODS 15 affected individuals...
متن کاملNew insights into the pathogenesis and therapeutics of episodic ataxia type 1
Episodic ataxia type 1 (EA1) is a K(+) channelopathy characterized by a broad spectrum of symptoms. Generally, patients may experience constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks additional symptoms may be reported such as vertigo, blurred vision, diplopia, na...
متن کاملClinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system potassium channelopathy characterized by brief attacks of cerebellar ataxia and continuous interictal myokymia. Point mutations in the voltage-gated potassium channel gene KCNA1 on chromosome 12p associate with EA1. We have studied 4 families and identified three new and one previously reported heterozygous point mutat...
متن کاملPii: S0306-4522(98)00718-0
Episodic ataxia type 1 is a rare, autosomal dominant neurological disorder caused by missense mutations of the Kv1.1 gene from the Shaker K channel subfamily. To study the functional effects of the disease-causing mutations in a robust K channel background, we introduced seven different episodic ataxia type 1 substitutions into the corresponding, conserved residues of the Shaker K channel. K ch...
متن کاملNongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
OBJECTIVE Episodic ataxia type 1 (EA1) is a monogenic channelopathy caused by mutations of the potassium channel gene KCNA1. Affected individuals carrying the same mutation can exhibit considerable variability in the severity of ataxia, neuromyotonia, and other associated features. We investigated the phenotypic heterogeneity of EA1 in 2 sets of identical twins to determine the contribution of ...
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