Novel mutation in CACNA1S extends the phenotypic spectrum of periodic paralysis phenotypes: Electrodiagnostic and histopathological features

2015 ◽  
Vol 25 ◽  
pp. S210
Author(s):  
S. Iyadurai ◽  
J. Roggenbuck ◽  
J. Kissel
Keyword(s):  
Novel Mutation ◽  
Periodic Paralysis ◽  
Histopathological Features ◽  
Phenotypic Spectrum

A Novel Mutation in CACNA1S Gene Associated with Hypokalemic Periodic Paralysis Which has a Gender Difference in the Penetrance

2011 ◽  
Vol 46 (2) ◽  
pp. 378-383 ◽  
Author(s):  
Fei-Feng Li ◽  
Qian-Qian Li ◽  
Zhen-Xuan Tan ◽  
Si-Yao Zhang ◽  
Ji Liu ◽  
...  
Keyword(s):  
Gender Difference ◽  
Novel Mutation ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis

scholarly journals Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes

2017 ◽  
Vol 11 ◽  
pp. 117954681769813 ◽  
Author(s):  
Thomas M Roston ◽  
Taylor Cunningham ◽  
Anna Lehman ◽  
Zachary W Laksman ◽  
Andrew D Krahn ◽  
...  
Keyword(s):  
Ion Channel ◽  
Gene Mutations ◽  
Periodic Paralysis ◽  
Polymorphic Ventricular Tachycardia ◽  
The Past ◽  
Phenotypic Spectrum ◽  
Widespread Implementation ◽  
Past Half Century ◽  
Qt Syndrome ◽  
Past Half

Cardiac ion channelopathies are an important cause of sudden death in the young and include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, and short QT syndrome. Genes that encode ion channels have been implicated in all of these conditions, leading to the widespread implementation of genetic testing for suspected channelopathies. Over the past half-century, researchers have also identified systemic pathologies that extend beyond the arrhythmic phenotype in patients with ion channel gene mutations, including deafness, epilepsy, cardiomyopathy, periodic paralysis, and congenital heart disease. A coexisting phenotype, such as cardiomyopathy, can influence evaluation and management. However, prior to recent molecular advances, our understanding and recognition of these overlapping phenotypes were poor. This review highlights the systemic and structural heart manifestations of the cardiac ion channelopathies, including their phenotypic spectrum and molecular basis.

scholarly journals Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

2021 ◽  
Vol 12 ◽  
Author(s):  
Hui-ming Yan ◽  
Zhi-mei Liu ◽  
Bei Cao ◽  
Victor Wei Zhang ◽  
Yi-duo He ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Chinese Population ◽  
Novel Mutation ◽  
Case Series ◽  
Myocardial Damage ◽  
Compound Heterozygote ◽  
Novel Mutations ◽  
Mild Phenotype ◽  
Phenotypic Spectrum ◽  
Human Mitochondrial Genome

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that patient 1 was a compound heterozygote with novel mutations c.413C > T (p. A138V) and c.509_510del (p. E170Gfs∗42) in GTPBP3. Patient 2 was a compound heterozygote with novel mutations c.544G > T (p. G182X) and c.785A > C (p.Q262P), while patient 3 was a compound heterozygote with a previously reported mutation c.424G > A (p.E142K) and novel mutation c.785A > C (p.Q262P). In conclusion, we first describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counseling of patients with mitochondrial disease.

Permanent muscle weakness in hypokalemic periodic paralysis

Neurology ◽  
2020 ◽  
Vol 95 (4) ◽  
pp. e342-e352
Author(s):  
Sonja Holm-Yildiz ◽  
Nanna Witting ◽  
Julia Dahlqvist ◽  
Josefine de Stricker Borch ◽  
Tuva Solheim ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Medical History ◽  
Muscle Weakness ◽  
Periodic Paralysis ◽  
Paraspinal Muscles ◽  
Hypokalemic Periodic Paralysis ◽  
Muscle Mri ◽  
Fat Replacement ◽  
Phenotypic Spectrum ◽  
Mixed Phenotype

ObjectiveTo map the phenotypic spectrum in 55 individuals with mutations in CACNA1S known to cause hypokalemic periodic paralysis (HypoPP) using medical history, muscle strength testing, and muscle MRI.MethodsAdults with a mutation in CACNA1S known to cause HypoPP were included. Medical history was obtained. Muscle strength and MRI assessments were performed.ResultsFifty-five persons were included. Three patients presented with permanent muscle weakness and never attacks of paralysis. Seventeen patients presented with a mixed phenotype of periodic paralysis and permanent weakness. Thirty-one patients presented with the classical phenotype of periodic attacks of paralysis and no permanent weakness. Four participants were asymptomatic. Different phenotypes were present in 9 of 18 families. All patients with permanent weakness had abnormal replacement of muscle by fat on MRI. In addition, 20 of 35 participants with no permanent weakness had abnormal fat replacement of muscle on MRI. The most severely affected muscles were the paraspinal muscles, psoas, iliacus, the posterior muscles of the thigh and gastrocnemius, and soleus of the calf. Age was associated with permanent weakness and correlated with severity of weakness and fat replacement of muscle on MRI.ConclusionsOur results show that phenotype in individuals with HypoPP-causing mutations in CACNA1S varies from asymptomatic to periodic paralysis with or without permanent muscle weakness or permanent weakness as sole presenting picture. Variable phenotypes are found within families. Muscle MRI reveals fat replacement in patients with no permanent muscle weakness, suggesting a convergence of phenotype towards a fixed myopathy with aging.

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis

2011 ◽  
Vol 309 (1-2) ◽  
pp. 9-11 ◽  
Author(s):  
Makito Hirano ◽  
Yosuke Kokunai ◽  
Asami Nagai ◽  
Yusaku Nakamura ◽  
Kazumasa Saigoh ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Novel Mutation ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Channel Gene

scholarly journals MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review

Seizure ◽  
2019 ◽  
Vol 67 ◽  
pp. 86-90 ◽  
Author(s):  
Felippe Borlot ◽  
Robyn Whitney ◽  
Ronald D. Cohn ◽  
Shelly K. Weiss
Keyword(s):  
Literature Review ◽  
Novel Mutation ◽  
Phenotypic Spectrum

scholarly journals A New Vision about Folliculitis Decalvans and Lichen Planopilaris: Two Distinct Entities or a Continuous Phenotypic Spectrum?

2021 ◽  
Vol 79 (4) ◽  
pp. 361-364
Author(s):  
Ana Marcos-Pinto ◽  
Angela Roda ◽  
Luís Soares-de-Almeida ◽  
Rui Oliveira Soares
Keyword(s):  
Lichen Planopilaris ◽  
Histopathological Features ◽  
Phenotypic Spectrum ◽  
New Vision ◽  
Folliculitis Decalvans

Folliculitis decalvans and lichen planopilaris have been considered two distinct cicatricial alopecias. However, biphasic presentation of folliculitis decalvans - lichen planopilaris in the same patient has been recently described, therefore raising the doubt if they are two distinct entities or a continuous phenotypic spectrum.We describe the case of a man who presented clinical, trichoscopic, and histopathological features of both entities. Moreover, we discuss current theories about the pathogenesis of the two diseases and their coexistence in the same patient. The recognition of similar cases allows to optimize the approach and treatment.  

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