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[PMID]:29050397
[Au] Autor:Andersen G; Hedermann G; Witting N; Duno M; Andersen H; Vissing J
[Ad] Endereço:Department of Neurology, Copenhagen Neuromuscular Center, University of Copenhagen, Denmark.
[Ti] Título:The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.
[So] Source:Brain;140(9):2295-2305, 2017 Sep 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mexiletine is the only drug with proven effect for treatment of non-dystrophic myotonia, but mexiletine is expensive, has limited availability and several side effects. There is therefore a need to identify other pharmacological compounds that can alleviate myotonia in non-dystrophic myotonias. Like mexiletine, lamotrigine is a sodium channel blocker, but unlike mexiletine, lamotrigine is available, inexpensive, and well tolerated. We investigated the potential of using lamotrigine for treatment of myotonia in patients with non-dystrophic myotonias. In this, randomized double-blind, placebo-controlled, two-period cross-over study, we included adult outpatients recruited from all of Denmark with clinical myotonia and genetically confirmed myotonia congenita and paramyotonia congenita for investigation at the Copenhagen Neuromuscular Center. A pharmacy produced the medication and placebo, and randomized patients in blocks of 10. Participants and investigators were all blinded to treatment until the end of the trial. In two 8-week periods, oral lamotrigine or placebo capsules were provided once daily, with increasing doses (from 25 mg, 50 mg, 150 mg to 300 mg) every second week. The primary outcome was a severity score of myotonia, the Myotonic Behaviour Scale ranging from asymptomatic (score 1) to invalidating myotonia (score 6), reported by the participants during Weeks 0 and 8 in each treatment period. Clinical myotonia was also measured and side effects were monitored. The study was registered at ClinicalTrials.gov (NCT02159963) and EudraCT (2013-003309-24). We included 26 patients (10 females, 16 males, age: 19-74 years) from 13 November 2013 to 6 July 2015. Twenty-two completed the entire study. One patient withdrew due to an allergic reaction to lamotrigine. Three patients withdrew for reasons not related to the trial intervention. The Myotonic Behaviour Scale at baseline was 3.2 ± 1.1, which changed after treatment with lamotrigine by 1.3 ± 0.2 scores (P < 0.001), but not with placebo (0.2 ± 0.1 scores, P = 0.4). The estimated effect size was 1.0 ± 0.2 (95% confidence interval = 0.5-1.5, P < 0.001, n = 22). The standardized effect size of lamotrigine was 1.5 (confidence interval: 1.2-1.8). Number needed to treat was 2.6 (P = 0.006, n = 26). No adverse or unsuspected event occurred. Common side effects occurred in both treatment groups; number needed to harm was 5.2 (P = 0.11, n = 26). Lamotrigine effectively reduced myotonia, emphasized by consistency between effects on patient-related outcomes and objective outcomes. The frequency of side effects was acceptable. Considering this and the high availability and low cost of the drug, we suggest that lamotrigine should be used as the first line of treatment for myotonia in treatment-naive patients with non-dystrophic myotonias.
[Mh] Termos MeSH primário: Miotonia Congênita/tratamento farmacológico
Transtornos Miotônicos/tratamento farmacológico
Triazinas/uso terapêutico
[Mh] Termos MeSH secundário: Adulto
Idoso
Estudos Cross-Over
Relação Dose-Resposta a Droga
Método Duplo-Cego
Feminino
Seres Humanos
Masculino
Meia-Idade
Resultado do Tratamento
Triazinas/efeitos adversos
Bloqueadores do Canal de Sódio Disparado por Voltagem/efeitos adversos
Bloqueadores do Canal de Sódio Disparado por Voltagem/uso terapêutico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Triazines); 0 (Voltage-Gated Sodium Channel Blockers); U3H27498KS (lamotrigine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx192


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[PMID]:28662944
[Au] Autor:Matthews E; Silwal A; Sud R; Hanna MG; Manzur AY; Muntoni F; Munot P
[Ad] Endereço:Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: emma.matthews@ucl.ac.uk.
[Ti] Título:Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
[So] Source:J Pediatr;188:181-185.e6, 2017 Sep.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy. Neonatal hypotonia was observed in periodic paralysis. Scoliosis and/or contractures were demonstrated in 6 of 38 children. School attendance or ability to engage fully in all activities was often limited (25 of 38). CONCLUSIONS: Children with skeletal muscle channelopathies frequently display symptoms that are uncommon in adult disease. Any child presenting with abnormal gait, leg cramps, or strabismus, especially if intermittent, should prompt examination for myotonia. Those with sodium channel disease should be monitored for respiratory or bulbar complications. Neonatal hypotonia can herald periodic paralysis. Early diagnosis is essential for children to reach their full educational potential.
[Mh] Termos MeSH primário: Canalopatias/complicações
Transtornos Miotônicos/diagnóstico
Canais de Sódio/genética
[Mh] Termos MeSH secundário: Absenteísmo
Adolescente
Obstrução das Vias Respiratórias
Canalopatias/diagnóstico
Criança
Pré-Escolar
Contratura/etiologia
Diplopia/etiologia
Feminino
Transtornos Neurológicos da Marcha
Seres Humanos
Lactente
Recém-Nascido
Masculino
Cãibra Muscular/etiologia
Hipotonia Muscular/etiologia
Transtornos Miotônicos/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Sons Respiratórios/etiologia
Estudos Retrospectivos
Escoliose/etiologia
Estrabismo/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human); 0 (Sodium Channels)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE


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[PMID]:27428488
[Au] Autor:Veltsista D; Chroni E
[Ad] Endereço:Department of Neurology, School of Medicine University of Patras, Patras, Greece.
[Ti] Título:A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family.
[So] Source:Clin Neurol Neurosurg;148:85-7, 2016 Sep.
[Is] ISSN:1872-6968
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Neuropatia Hereditária Motora e Sensorial/fisiopatologia
Transtornos Miotônicos/fisiopatologia
Proteínas do Tecido Nervoso/genética
[Mh] Termos MeSH secundário: Adulto
Grécia
Neuropatia Hereditária Motora e Sensorial/genética
Seres Humanos
Masculino
Transtornos Miotônicos/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HINT1 protein, human); 0 (Nerve Tissue Proteins)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160719
[St] Status:MEDLINE


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[PMID]:27300293
[Au] Autor:Rudnik-Schöneborn S; Witsch-Baumgartner M; Zerres K
[Ad] Endereço:Institute of Human Genetics, Medical Faculty Uniklinik RWTH Aachen, Aachen, Germany.
[Ti] Título:Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.
[So] Source:Gynecol Obstet Invest;81(5):472-6, 2016.
[Is] ISSN:1423-002X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: There are only few reports of pregnancy and delivery in non-dystrophic myotonia or periodic paralysis caused by CLCN1 or SCN4A gene mutations. METHODS: We report the medical histories and personal attitudes of 5 unrelated German patients, 2 following autosomal recessive inheritance (case 1; most likely and case 2; confirmed Becker disease) and 3 following autosomal dominant inheritance (case 3; CLCN1 mutation, cases 4-5; SCN4A mutations), who delivered a total of 9 children. RESULTS: Apart from case 5 with periodic paralysis, who had 5 early miscarriages and pre-eclampsia resulting in cesarean delivery, there was no evidence of increased obstetric complication rates, and neonatal outcome was favorable. In all patients, there was aggravation of myotonia or weakness in pregnancy, followed by a short-term improvement after delivery in cases 2 and 3. Mexiletine medication improved the clinical features significantly in case 2 but was unable to control pregnancy-related deterioration. In case 4 (and her sister) and case 5, there was a clear disease aggravation in pregnancy resulting in hospitalization or repeated neurological examinations. CONCLUSION: Pregnancy can be regarded as a strong triggering factor in inherited non-dystrophic myotonias and periodic paralysis, regardless of the underlying gene defect.
[Mh] Termos MeSH primário: Miotonia/genética
Transtornos Miotônicos/genética
Paralisias Periódicas Familiares/genética
Gravidez/fisiologia
[Mh] Termos MeSH secundário: Adulto
Canais de Cloreto/genética
Feminino
Seres Humanos
Miotonia/fisiopatologia
Transtornos Miotônicos/fisiopatologia
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Paralisias Periódicas Familiares/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CLC-1 channel); 0 (Chloride Channels); 0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170419
[Lr] Data última revisão:
170419
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160615
[St] Status:MEDLINE
[do] DOI:10.1159/000446944


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[PMID]:27060299
[Au] Autor:Li W; Chen Q; Zhang Q; Li X; Du J
[Ad] Endereço:Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China.tandujuan@csu.edu.cn.
[Ti] Título:[Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;33(2):131-4, 2016 Apr.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To detect SCN4A gene mutation in a pedigree with paramyotonia congenita in order to facilitate genetic counseling and assisted reproduction. METHODS: Clinical data of the family was collected. DNA was extracted from peripheral blood samples. Potential mutation of the SCN4A gene was screened using PCR-Sanger sequencing. Potential mutation was detected in 3 affected relatives, 4 unaffected relatives and 100 unrelated healthy controls. Bioinformatics software was used to predict the effect of mutation on the protein function and conservation of the sequence at the mutation site across various species. RESULTS: A novel missense mutation c.4427T>C (p.Met1476Thr) was detected in the exon 24 of the SCN4A gene in the proband and other 3 affected relatives, but not in 4 unaffected relatives and 100 unrelated controls. Bioinformatic analysis indicated that the codon is highly conserved across various species, and that the mutation has caused damage to the structure and function of SCN4A protein. CONCLUSION: The c.4427 T>C (p.Met1476Thr) mutation of the SCN4A gene may contribute to the paramyotonia congenita. Detection of SCN4A gene mutation is an effective method for the diagnosis of paramyotonic congenita.
[Mh] Termos MeSH primário: Transtornos Miotônicos/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Mutação Puntual
[Mh] Termos MeSH secundário: Adulto
Sequência de Aminoácidos
Grupo com Ancestrais do Continente Asiático/genética
Sequência de Bases
China
Éxons
Feminino
Seres Humanos
Masculino
Meia-Idade
Dados de Sequência Molecular
Mutação de Sentido Incorreto
Linhagem
Alinhamento de Sequência
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:160410
[Lr] Data última revisão:
160410
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160410
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2016.02.001


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[PMID]:27199537
[Au] Autor:Maggi L; Brugnoni R; Canioni E; Maccagnano E; Bernasconi P; Morandi L
[Ad] Endereço:Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy;
[Ti] Título:Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
[So] Source:Acta Myol;34(2-3):109-15, 2015 Dec.
[Is] ISSN:1128-2460
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Skeletal muscle channelopathies (SMC), including non dystrophic myotonias (NDM) and periodic paralyses (PP), are characterized by considerable clinical overlap and clinical features not always allow addressing molecular diagnosis. Muscle imaging has been shown to be useful for differential diagnosis in neuromuscular disorders, however it has been relatively poorly investigated in SMC. We studied 15 patients affected by genetically confirmed SMC (NDM = 9, PP = 6) through muscle MRI or CT of thighs and legs, including 11 patients mutated in SCN4A gene, 2 in CACNA1S and 2 in CLCN1. Mean age at muscle imaging was 45.2 ± 18 years (range 22-70). Overall, fatty infiltration was found in thigh muscles in 8 (53%) patients and in leg muscles in 10 (60%). All patients mutated in CLCN1 and CACNA1S had abnormal thigh and/or leg muscle MRI, regardless the disease duration. On the contrary normal thigh and leg muscle MRI or CT scans were observed in 4/15 (27%) patients, all mutated in SCN4A. Variable degrees of fatty changes were found in patients mutated in SCN4A, CACNA1S and CLCN1. No differences on overall score of fatty infiltration were detected between NDM and PP (p-value = 0.953) neither between presence or absence of permanent weakness (p-value = 0.951). Our data confirm the presence of muscle fatty changes in the majority of SMC patients, although without any specific pattern of involvement. However muscle MRI may be a useful tool for longitudinal follow-up of SMC patients, in particular to evaluate the occurrence and the progression of fixed myopathy.
[Mh] Termos MeSH primário: Canalopatias/diagnóstico por imagem
Extremidade Inferior/diagnóstico por imagem
Transtornos Miotônicos/diagnóstico por imagem
Paralisias Periódicas Familiares/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Idoso
Canalopatias/genética
Diagnóstico Diferencial
Feminino
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Transtornos Miotônicos/genética
Paralisias Periódicas Familiares/genética
Fenótipo
Estudos Retrospectivos
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170123
[Lr] Data última revisão:
170123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160521
[St] Status:MEDLINE


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[PMID]:26494408
[Au] Autor:Mankodi A; Grunseich C; Skov M; Cook L; Aue G; Purev E; Bakar D; Lehky T; Jurkat-Rott K; Pedersen TH; Childs RW
[Ad] Endereço:Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA. Electronic address: Ami.Mankodi@nih.gov.
[Ti] Título:Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
[So] Source:Neuromuscul Disord;25(11):908-12, 2015 Nov.
[Is] ISSN:1873-2364
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in the Nav1.4 channel activation and a faster recovery from slow channel inactivation. A further shift in the Nav1.4 channel activation in the hyperpolarizing direction as expected with low divalent cations resulted in myotonia that progressed to membrane inexcitability. Shifting the channel activation in the depolarizing direction as would be anticipated from magnesium supplementation abolished the myotonia. These observations provide clinical and biophysical evidence that the muscle symptoms in sodium channelopathy are sensitive to divalent cations. Exploration of the role of magnesium administration in therapy or prophylaxis is warranted with a randomized clinical trial.
[Mh] Termos MeSH primário: Modelos Biológicos
Transtornos Miotônicos/fisiopatologia
Canal de Sódio Disparado por Voltagem NAV1.4/metabolismo
Paralisia/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Cátions/metabolismo
Simulação por Computador
Seres Humanos
Masculino
Músculos/citologia
Músculos/fisiopatologia
Transtornos Miotônicos/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Oligopeptídeos
Paralisia/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Cations); 0 (MUT 1 peptide); 0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (Oligopeptides); 0 (SCN4A protein, human)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:161101
[Lr] Data última revisão:
161101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151024
[St] Status:MEDLINE


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[PMID]:25755818
[Au] Autor:Xu C; Qi J; Shi Y; Feng Y; Zang W; Zhang J
[Ad] Endereço:Department of Neurology, People's Hospital of Zhengzhou University Zhengzhou, China.
[Ti] Título:Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
[So] Source:Int J Clin Exp Pathol;8(1):1050-6, 2015.
[Is] ISSN:1936-2625
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Four generations of a Chinese family with a mild form of paramyotonia congenital was characterized in phenotype and genotype. For each member, clinical history, physical examination, laboratory tests, electrophysiological and gene analyses were recorded and carried out. A potassium loading, exercise and cold provocation were further tested to diagnose the clinical differentiation. All members shared the characteristics of mild muscle cramp and stiffness induced by exercise or exposed to cold. The symptoms were relieved after rest and warming. A Val1589Met mutation at exon 24 of the SCN4A gene appears in affected subjects, while healthy members had a point mutation at position 1513 at exon 24 of the SCN4A gene. The mild phenotype of the paramyotonia congenital in the family had a Val1589Met mutation in the SCN4A gene. Various phenotypes can exist among different families, indicating that family, individual, genetic or environmental factors influence symptoms.
[Mh] Termos MeSH primário: Transtornos Miotônicos/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático
Análise Mutacional de DNA
Feminino
Genótipo
Seres Humanos
Masculino
Mutação
Linhagem
Fenótipo
Reação em Cadeia da Polimerase Via Transcriptase Reversa
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150311
[St] Status:MEDLINE


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[PMID]:25454733
[Au] Autor:Drost G; Stunnenberg BC; Trip J; Borm G; McGill KC; Ginjaar IH; van der Kooi AW; Zwarts MJ; van Engelen BG; Faber CG; Stegeman DF; Lateva Z
[Ad] Endereço:Department of Neurology, Department of Neurosurgery, University of Groningen, University Medical Center Groningen, The Netherlands. Electronic address: g.drost@umcg.nl.
[Ti] Título:Myotonic discharges discriminate chloride from sodium muscle channelopathies.
[So] Source:Neuromuscul Disord;25(1):73-80, 2015 Jan.
[Is] ISSN:1873-2364
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Non-dystrophic myotonic syndromes represent a heterogeneous group of clinically quite similar diseases sharing the feature of myotonia. These syndromes can be separated into chloride and sodium channelopathies, with gene-defects in chloride or sodium channel proteins of the sarcolemmal membrane. Myotonia has its basis in an electrical instability of the sarcolemmal membrane. In the present study we examine the discriminative power of the resulting myotonic discharges for these disorders. Needle electromyography was performed by an electromyographer blinded for genetic diagnosis in 66 non-dystrophic myotonia patients (32 chloride and 34 sodium channelopathy). Five muscles in each patient were examined. Individual trains of myotonic discharges were extracted and analyzed with respect to firing characteristics. Myotonic discharge characteristics in the rectus femoris muscle almost perfectly discriminated chloride from sodium channelopathy patients. The first interdischarge interval as a single variable was longer than 30 ms in all but one of the chloride channelopathy patients and shorter than 30 ms in all of the sodium channelopathy patients. This resulted in a detection rate of over 95%. Myotonic discharges of a single muscle can be used to better guide toward a molecular diagnosis in non-dystrophic myotonic syndromes.
[Mh] Termos MeSH primário: Canalopatias/diagnóstico
Canalopatias/fisiopatologia
Canais de Cloreto/genética
Transtornos Miotônicos/diagnóstico
Transtornos Miotônicos/fisiopatologia
Canal de Sódio Disparado por Voltagem NAV1.4/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Canalopatias/genética
Eletromiografia
Feminino
Seres Humanos
Masculino
Meia-Idade
Músculo Esquelético/fisiopatologia
Transtornos Miotônicos/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (CLC-1 channel); 0 (Chloride Channels); 0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human)
[Em] Mês de entrada:1508
[Cu] Atualização por classe:141229
[Lr] Data última revisão:
141229
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141203
[St] Status:MEDLINE


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[PMID]:25348630
[Au] Autor:Corrochano S; Männikkö R; Joyce PI; McGoldrick P; Wettstein J; Lassi G; Raja Rayan DL; Blanco G; Quinn C; Liavas A; Lionikas A; Amior N; Dick J; Healy EG; Stewart M; Carter S; Hutchinson M; Bentley L; Fratta P; Cortese A; Cox R; Brown SD; Tucci V; Wackerhage H; Amato AA; Greensmith L; Koltzenburg M; Hanna MG; Acevedo-Arozena A
[Ad] Endereço:1 MRC Mammalian Genetics Unit, Harwell, Oxfordshire, UK.
[Ti] Título:Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
[So] Source:Brain;137(Pt 12):3171-85, 2014 Dec.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on channel function have been characterized both in vitro and in vivo. However, little is known about the consequences of SCN4A mutations downstream from their impact on the electrophysiology of the Nav1.4 channel. Here we report the discovery of a novel SCN4A mutation (c.1762A>G; p.I588V) in a patient with myotonia and periodic paralysis, located within the S1 segment of the second domain of the Nav1.4 channel. Using N-ethyl-N-nitrosourea mutagenesis, we generated and characterized a mouse model (named draggen), carrying the equivalent point mutation (c.1744A>G; p.I582V) to that found in the patient with periodic paralysis and myotonia. Draggen mice have myotonia and suffer from intermittent hind-limb immobility attacks. In-depth characterization of draggen mice uncovered novel systemic metabolic abnormalities in Scn4a mouse models and provided novel insights into disease mechanisms. We discovered metabolic alterations leading to lean mice, as well as abnormal AMP-activated protein kinase activation, which were associated with the immobility attacks and may provide a novel potential therapeutic target.
[Mh] Termos MeSH primário: Proteínas Quinases Ativadas por AMP/genética
Canalopatias/genética
Mutação/genética
Miotonia/genética
Transtornos Miotônicos/genética
Canal de Sódio Disparado por Voltagem NAV1.4/genética
Paralisias Periódicas Familiares/genética
[Mh] Termos MeSH secundário: Animais
Seres Humanos
Camundongos
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (NAV1.4 Voltage-Gated Sodium Channel); 0 (SCN4A protein, human); 0 (Scn4a protein, mouse); EC 2.7.11.31 (AMP-Activated Protein Kinases)
[Em] Mês de entrada:1503
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:141029
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awu292



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