Richa Sud
Overview
Explore the profile of Richa Sud including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
21
Citations
286
Followers
0
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Recent Articles
1.
Vivekanandam V, Jaibaji R, Sud R, Ellmers R, Skorupinska I, Germaine L, et al.
Neuromuscul Disord
. 2023 Feb;
33(3):270-273.
PMID: 36796140
We provide an up-to-date and accurate minimum point prevalence of genetically defined skeletal muscle channelopathies which is important for understanding the population impact, planning for treatment needs and future clinical...
2.
Vivekanandam V, Mannikko R, Skorupinska I, Germain L, Gray B, Wedderburn S, et al.
Brain
. 2021 Dec;
145(6):2108-2120.
PMID: 34919635
Andersen-Tawil syndrome is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously expressed Kir2.1 potassium channel. The syndrome is characterized by episodic weakness, cardiac arrythmias...
3.
Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, et al.
Brain
. 2021 Sep;
145(2):607-620.
PMID: 34529042
High-throughput DNA sequencing is increasingly employed to diagnose single gene neurological and neuromuscular disorders. Large volumes of data present new challenges in data interpretation and its useful translation into clinical...
4.
Suetterlin K, Vivekanandam V, James N, Sud R, Holmes S, Fialho D, et al.
Neurol Clin Pract
. 2021 May;
11(1):e40-e42.
PMID: 33968492
No abstract available.
5.
Suetterlin K, Mannikko R, Flossmann E, Sud R, Fialho D, Vivekanandam V, et al.
J Neuromuscul Dis
. 2020 Oct;
8(1):151-154.
PMID: 33074188
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac...
6.
Cea G, Andreu D, Fletcher E, Ramdas S, Sud R, Hanna M, et al.
Wellcome Open Res
. 2020 Jun;
5:57.
PMID: 32509969
Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to...
7.
Thor M, Vivekanandam V, Sampedro-Castaneda M, Tan S, Suetterlin K, Sud R, et al.
Sci Rep
. 2019 Nov;
9(1):17560.
PMID: 31772215
The sarcolemmal voltage gated sodium channel Na1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential. It contains four voltage-sensing domains (VSDs) that regulate...
8.
Sampedro Castaneda M, Zanoteli E, Scalco R, Scaramuzzi V, Caldas V, Reed U, et al.
Brain
. 2018 Nov;
141(12):3308-3318.
PMID: 30423015
Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by episodes of skeletal muscle paralysis associated with low serum potassium. Muscle fibre inexcitability during attacks of paralysis is due...
9.
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na1.4
Luo S, Sampedro Castaneda M, Matthews E, Sud R, Hanna M, Sun J, et al.
Sci Rep
. 2018 Jun;
8(1):9714.
PMID: 29946067
Dominantly inherited channelopathies of the skeletal muscle voltage-gated sodium channel Na1.4 include hypokalaemic and hyperkalaemic periodic paralysis (hypoPP and hyperPP) and myotonia. HyperPP and myotonia are caused by Na1.4 channel...
10.
Matthews E, Hartley L, Sud R, Hanna M, Muntoni F, Munot P
J Neurol Neurosurg Psychiatry
. 2018 May;
90(2):243-245.
PMID: 29769250
No abstract available.