New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus
K Beauvais, F Cavé-Riant, C De Barace… - European …, 2004 - search.proquest.com
K Beauvais, F Cavé-Riant, C De Barace, M Tardieu, E Tournier-Lasserve, A Furby
European neurology, 2004•search.proquest.comFamilial hemiplegic migraine (FHM) is an autosomal dominant neuronal channelopathy [1,
2]. Clinical onset usually occurs during adolescence [3]. Attacks include unilateral weakness
associated with other aura symptoms such as sensory, visual, or speech disturbances [1–4].
In some cases permanent cerebellar ataxia also may be present [1–5]. The CACNA 1A
gene, located on chromosome 19p 13, encodes the main subunit (o. 1A) of the neuronal P/Q
type voltage-gated calcium-ion channel [6]. A mutation of this gene is implicated in about …
2]. Clinical onset usually occurs during adolescence [3]. Attacks include unilateral weakness
associated with other aura symptoms such as sensory, visual, or speech disturbances [1–4].
In some cases permanent cerebellar ataxia also may be present [1–5]. The CACNA 1A
gene, located on chromosome 19p 13, encodes the main subunit (o. 1A) of the neuronal P/Q
type voltage-gated calcium-ion channel [6]. A mutation of this gene is implicated in about …
Familial hemiplegic migraine (FHM) is an autosomal dominant neuronal channelopathy [1, 2]. Clinical onset usually occurs during adolescence [3]. Attacks include unilateral weakness associated with other aura symptoms such as sensory, visual, or speech disturbances [1–4]. In some cases permanent cerebellar ataxia also may be present [1–5]. The CACNA 1A gene, located on chromosome 19p 13, encodes the main subunit (o. 1A) of the neuronal P/Q type voltage-gated calcium-ion channel [6]. A mutation of this gene is implicated in about 50% of families with FHM and in all families with cerebellar signs [2, 3]. Here we describe a patient suffering from a severe phenotype of
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