Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family
“…Although we did not see any tubular aggregates in our control muscles, it should be noted that tubular aggregates have been previously reported in aged inbred mice and could be a consequence of the ageing process (Agbulut et al , 2000). However, similar pathological features have been described in cases of periodic paralysis and myotonia (Bradley et al , 1990; Schoser et al , 2007; Luan et al , 2009; Feng et al , 2011). Therefore, draggen mice offer a novel excellent model to study the role of tubular aggregates and vacuoles in the pathophysiology of S CN4A channelopathies.…”
Section: Discussionsupporting
confidence: 66%
“…5E and F). Thus, draggen mice show progressive muscle pathology, mimicking the muscle pathology seen in some myotonia and patients with periodic paralysis (Bradley et al , 1990; Tengan et al , 1994; Feng et al , 2009, 2011; Luan et al , 2009; Trip et al , 2009). Figure 5Tubular aggregates and vacuoles in skeletal muscle of draggen mice.…”
Corrochano Sanchez et al. identify a novel mutation (I588V) in SCN4A, which encodes the Nav1.4 voltage-gated sodium channel, in a patient with myotonia and periodic paralysis. By generating and characterizing a mouse model (‘draggen’) carrying the equivalent point mutation (I582V), they uncover novel pathological and metabolic features of SCN4A channelopathies.
“…Although we did not see any tubular aggregates in our control muscles, it should be noted that tubular aggregates have been previously reported in aged inbred mice and could be a consequence of the ageing process (Agbulut et al , 2000). However, similar pathological features have been described in cases of periodic paralysis and myotonia (Bradley et al , 1990; Schoser et al , 2007; Luan et al , 2009; Feng et al , 2011). Therefore, draggen mice offer a novel excellent model to study the role of tubular aggregates and vacuoles in the pathophysiology of S CN4A channelopathies.…”
Section: Discussionsupporting
confidence: 66%
“…5E and F). Thus, draggen mice show progressive muscle pathology, mimicking the muscle pathology seen in some myotonia and patients with periodic paralysis (Bradley et al , 1990; Tengan et al , 1994; Feng et al , 2009, 2011; Luan et al , 2009; Trip et al , 2009). Figure 5Tubular aggregates and vacuoles in skeletal muscle of draggen mice.…”
Corrochano Sanchez et al. identify a novel mutation (I588V) in SCN4A, which encodes the Nav1.4 voltage-gated sodium channel, in a patient with myotonia and periodic paralysis. By generating and characterizing a mouse model (‘draggen’) carrying the equivalent point mutation (I582V), they uncover novel pathological and metabolic features of SCN4A channelopathies.
“…Matthews et al found that there were more than 20 SCN4A gene mutation sites associated with paramyotonia congenita (PMC) by summing up the HGMD database and the hotspot mutation regions were located in the 22th and 24th exon [14]. Furthermore, there was close relationship between paralysis periodica paramyotonica (PPP) and SCN4A mutations, such as Met1592Val, Arg1448Cys and so on [15,16]. Bugiardini et al first reported that the variant c.215C>T…”
Background
Carbamazepine is an important treatment for epileptic disorders, bipolar disorder and trigeminal neuralgia. However, some patients would suffer from cutaneous adverse drug reactions (cADRs) after taking it. At present, the carbamazepine-induced drug reaction has a great relationship with genetic diversity. The present study reported a patient who presented with rash after starting carbamazepine, and a whole genome analysis was reported.
Case presentation
A 17-year-old girl was transferred to our Neurology Department with symptoms of painful neck and seizures. Skull computerized tomography (CT) revealed subarachnoid hemorrhage. Electroencephalogram (EEG) revealed sharp waves, spikes slow waves and sharp slow waves. The clinical diagnosis of subarachnoid hemorrhage and symptomatic epilepsy were made through a series of inspections. Carbamazepine was administered. The patient presented with rash at six days after starting carbamazepine, and presented with a striking clinical drug reaction. Hence, a whole genome analysis was carried out. And the Met1080Val mutation was found in the SCN4A gene (SCN4A: c.3238T>C|p.Met1080Val).
Discussion
The result revealed that the mutation of Met1080Val in the SCN4A gene was associated with the carbamazepine-induced drug reaction. However, this conclusion needs to be confirmed by a large number of clinical data and related functional mechanisms.
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