Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis

Guo, Xianguang; Wu, Wei; Zhu, Kun Yan; Wang, Hongbin; Si, Yanna; MaoYanling,

doi:10.1007/s10571-007-9231-4

Cited by 12 publications

(11 citation statements)

References 15 publications

(15 reference statements)

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“…Notably, mutations were enriched at exons 12, 13, and 24 of the SCN4A gene, leading to amino acid substitutions including T704M, M1592V, V781I, R675G, R675W, R675Q, and R1129Q ( 2 – 5 ). To the best of our knowledge, NormoKPP associated with the p.M1592V mutation has been reported in only three pedigrees ( 3 , 6 , 7 ). In this study, we report a familial NormoKPP associated with the SCN4A p.M1592V mutation, and reviewed the literature.…”

Section: Introductionmentioning

confidence: 95%

Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Wang

et al. 2018

Front. Neurol.

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Periodic paralysis (PP) is an uncommon inherited disorder causing recurrent episodes of muscle weakness, with an incidence of 0.001%. Normokalemic periodic paralysis (NormoKPP) as the rarest subtype of PP contains both familial and sporadic. Familial NormoKPP caused by the p.M1592V mutation of the skeletal muscle sodium channel alpha subunit (SCN4A) gene is rarely reported. Only three pedigrees of NormoKPP related to mutations in the SCN4A p.M1592V have been previously reported. We herein presented a family case of NormoKPP associated with the SCN4A p.M1592V mutation, in which respiratory muscle paralysis occurred in the proband while not in his children. Moreover, we conducted a thorough literature review. To our knowledge, this is the first report of respiratory muscle paralysis as a symptom of NormoKPP associated with mutation in the SCN4A p.M1592V.

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Section: Introductionmentioning

confidence: 95%

Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Wang

et al. 2018

Front. Neurol.

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“…Recently, a number of studies [7][8][9] have revealed that mutation R675Q in SCN4A mainly caused 2 kinds of disease: hyperPP and normoKPP (normokalemic periodic paralysis). In addition, more and more findings supported the notion that normoKPP was not a distinct disease and normokalemia could occur during attacks in patients with hyperPP.…”

Section: Dicussionmentioning

confidence: 99%

“…Weakness is precipitated not only by a carbohydrate load or rest after exercise but also by cortisone, coldness season alteration and potassium supplements. [7][8][9] The latter was relatively rare predisposition in hypokalemic periodic paralysis. All patients had periodic paralysis and never exhibit myotonia in their lifetime.…”

Section: Dicussionmentioning

confidence: 99%

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Liu

Huang²,

Luan³

et al. 2015

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“…Previous studies had found that many SCN4A gene mutations were associated with hyperkalemic periodic paralysis (HyperKPP), such as Thr704Met, Ala1156Thr, Met1360Val, Ile1495Phe, Met1592Val and so on [18][19][20][21][22]. It was also revealed that Thr704Met, Metl592Val, Val-781-lle and Arg675Gln mutations were correlated to normokalemic periodic paralysis (NormoKPP) in Chinese families, but there were no differences in the phenotype of these types of mutations and less reporting [23,24]. Similarly, hypokalemic periodic paralysis (HypoKPP) was closely associated with SCN4A mutations, such as R669H, R1135H, R1132Q, P1158S and so on [25][26][27] [29].…”

Section: Discussionmentioning

confidence: 94%

Severe carbamazepine-induced drug reaction and whole genome analysis: case report

Zhang

et al. 2019

Preprint

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Background Carbamazepine is an important treatment for epileptic disorders, bipolar disorder and trigeminal neuralgia. However, some patients would suffer from cutaneous adverse drug reactions (cADRs) after taking it. At present, the carbamazepine-induced drug reaction has a great relationship with genetic diversity. The present study reported a patient who presented with rash after starting carbamazepine, and a whole genome analysis was reported. Case presentation A 17-year-old girl was transferred to our Neurology Department with symptoms of painful neck and seizures. Skull computerized tomography (CT) revealed subarachnoid hemorrhage. Electroencephalogram (EEG) revealed sharp waves, spikes slow waves and sharp slow waves. The clinical diagnosis of subarachnoid hemorrhage and symptomatic epilepsy were made through a series of inspections. Carbamazepine was administered. The patient presented with rash at six days after starting carbamazepine, and presented with a striking clinical drug reaction. Hence, a whole genome analysis was carried out. And the Met1080Val mutation was found in the SCN4A gene (SCN4A: c.3238T>C|p.Met1080Val). Discussion The result revealed that the mutation of Met1080Val in the SCN4A gene was associated with the carbamazepine-induced drug reaction. However, this conclusion needs to be confirmed by a large number of clinical data and related functional mechanisms.

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Mutations of Sodium Channel α-Subunit Genes in Chinese Patients with Normokalemic Periodic Paralysis

Abstract: In addition to Val-781-Ile and Met1592Val, the mutation g2101a (Arg675Gln) may be the novel mutation of SCN4A genes in Chinese patients with normoKPP.

Cited by 12 publications

References 15 publications

Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Severe carbamazepine-induced drug reaction and whole genome analysis: case report

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