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Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, Cortés Zepeda R, Escobar RG, Kleinsteuber Saa K, Lagos Lucero M, Avaria Benapres MLA, Padilla Pérez O, Casar Leturia JC, Mellado Sagredo C, Sternberg D. Avila-Smirnow D, et al. Neuromuscul Disord. 2020 Jul;30(7):554-561. doi: 10.1016/j.nmd.2020.04.006. Epub 2020 May 19. Neuromuscul Disord. 2020. PMID: 32593548
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. ...SCN4A variants were observed …
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permane …
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.
Portaro S, Rodolico C, Sinicropi S, Musumeci O, Valenzise M, Toscano A. Portaro S, et al. Pediatrics. 2016 Apr;137(4):e20153289. doi: 10.1542/peds.2015-3289. Epub 2016 Mar 4. Pediatrics. 2016. PMID: 26944947 Review.
We report here on an 8-year-old girl who had presented, at birth, with SNEL who subsequently developed myotonia permanens starting at age 3 years. Results of molecular analysis revealed a de novo SCN4A G1306E mutation. The girl was treated with carbamazepine, ace …
We report here on an 8-year-old girl who had presented, at birth, with SNEL who subsequently developed myotonia permanens star …
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K. Lehmann-Horn F, et al. Acta Myol. 2017 Sep 1;36(3):125-134. eCollection 2017 Sep. Acta Myol. 2017. PMID: 29774303 Free PMC article.
INTRODUCTION: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. ...RESULTS: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome …
INTRODUCTION: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respira …
"Status myotonicus" in Nav1.4-M1592V channelopathy.
Rempe T, Subramony SH. Rempe T, et al. Neuromuscul Disord. 2020 May;30(5):424-426. doi: 10.1016/j.nmd.2020.03.002. Epub 2020 Mar 12. Neuromuscul Disord. 2020. PMID: 32327288
Na(v)1.4 channelopathies due to SCN4A mutations can present with episodic attacks of myotonia triggered by fluctuation in the potassium level (potassium-aggravated myotonia). We report a case of potassium-aggravated myotonia due to …
Na(v)1.4 channelopathies due to SCN4A mutations can present with episodic attacks of myotonia triggered by fluctuation in the potassi …
Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children.
Al-Ghamdi F, Darras BT, Ghosh PS. Al-Ghamdi F, et al. Pediatr Neurol. 2017 May;70:26-33. doi: 10.1016/j.pediatrneurol.2017.02.006. Epub 2017 Feb 16. Pediatr Neurol. 2017. PMID: 28325641
Ten patients had sodium channelopathy (four paramyotonia congenita and six other sodium channel myotonia). Stiffness of the facial muscles was an important presenting symptom, and eyelid myotonia was a common clinical finding in this subgroup. The majority of these …
Ten patients had sodium channelopathy (four paramyotonia congenita and six other sodium channel myotonia). Stiffness of the facial mu …
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.
Desaphy JF, Carbonara R, D'Amico A, Modoni A, Roussel J, Imbrici P, Pagliarani S, Lucchiari S, Lo Monaco M, Conte Camerino D. Desaphy JF, et al. Neurology. 2016 May 31;86(22):2100-8. doi: 10.1212/WNL.0000000000002721. Epub 2016 Apr 29. Neurology. 2016. PMID: 27164696 Free PMC article.
METHODS: Wild-type hNav1.4 channel and P1158L mutant were expressed in tsA201 cells for functional and pharmacologic studies using patch-clamp. RESULTS: The patient shows pronounced myotonia, slowness of movements, and generalized muscle hypertrophy. ...CONCLUSIONS: Clinic …
METHODS: Wild-type hNav1.4 channel and P1158L mutant were expressed in tsA201 cells for functional and pharmacologic studies using patch-cla …
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
Torbergsen T, Jurkat-Rott K, Stålberg EV, Løseth S, Hødneø A, Lehmann-Horn F. Torbergsen T, et al. Muscle Nerve. 2015 Oct;52(4):680-3. doi: 10.1002/mus.24672. Epub 2015 Jun 30. Muscle Nerve. 2015. PMID: 26080010
RESULTS: A G1306A mutation in the Nav1.4 voltage-gated sodium channel of skeletal muscle was identified. This mutation is known to cause myotonia fluctuans. No giant myotonic discharges or painful muscle cramps were found in the other G1306A families. CONCLUSIONS: E …
RESULTS: A G1306A mutation in the Nav1.4 voltage-gated sodium channel of skeletal muscle was identified. This mutation is known to cause …
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.
Taminato T, Mori-Yoshimura M, Miki J, Sasaki R, Sato N, Oya Y, Nishino I, Takahashi Y. Taminato T, et al. J Neuromuscul Dis. 2020;7(2):193-201. doi: 10.3233/JND-190440. J Neuromuscul Dis. 2020. PMID: 32083589 Review.
BACKGROUND: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persiste …
BACKGROUND: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient mu …
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF, Altamura C, Vicart S, Fontaine B. Desaphy JF, et al. J Neuromuscul Dis. 2021;8(3):357-381. doi: 10.3233/JND-200582. J Neuromuscul Dis. 2021. PMID: 33325393 Free PMC article.
RESULTS: For NMD, RCT showed therapeutic benefits of mexiletine and lamotrigine, while other human studies suggest some efficacy of various sodium channel blockers and of the carbonic anhydrase inhibitor (CAI) acetazolamide. Preclinical studies suggest that mutations may a …
RESULTS: For NMD, RCT showed therapeutic benefits of mexiletine and lamotrigine, while other human studies suggest some efficacy of various …
Increased sarcolemma chloride conductance as one of the mechanisms of action of carbonic anhydrase inhibitors in muscle excitability disorders.
Altamura C, Fonzino A, Tarantino N, Conte E, Liantonio A, Imbrici P, Carratù MR, Pierno S, Desaphy JF. Altamura C, et al. Exp Neurol. 2021 Aug;342:113758. doi: 10.1016/j.expneurol.2021.113758. Epub 2021 May 12. Exp Neurol. 2021. PMID: 33991525
To get insight into the mechanism of action of carbonic anhydrase inhibitors (CAI) in neuromuscular disorders, we investigated effects of dichlorphenamide (DCP) and acetazolamide (ACTZ) on ClC-1 chloride channels and skeletal muscle excitability. ...Such a mechanism may co …
To get insight into the mechanism of action of carbonic anhydrase inhibitors (CAI) in neuromuscular disorders, we investigated effects of di …
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