A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2
Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest numbe...
Saved in:
Main Authors: | Sean Lance, Stuart Mossman, Gemma Poke |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2018-01-01
|
Series: | Case Reports in Neurological Medicine |
Online Access: | http://dx.doi.org/10.1155/2018/5802650 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
by: Shiroh Miura, et al.
Published: (2024-01-01) -
Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant
by: Takuya Sumida, et al.
Published: (2024-12-01) -
Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
by: Melanie P. Napier, et al.
Published: (2025-04-01) -
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
by: Nivedita U. Jerath, et al.
Published: (2015-01-01) -
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis
by: Qian Liu, et al.
Published: (2025-01-01)