Centre Hospitalier Universitaire Sainte-Justine

healthcare đź“Ť Montreal, Canada
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Centre Hospitalier Universitaire Sainte-Justine
3
EM Publications
6
EM Researchers

Associated Institutions

Université de Montréal
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Erythromelalgia Researchers

Kim DY
3 EM publications • h-index: 3
Rossignol E
2 EM publications • h-index: 27
Najem K
1 EM publication • h-index: 5
Ospina LH
1 EM publication • h-index: 20
Vanasse M
1 EM publication • h-index: 33
Nizard S
1 EM publication • h-index: 12

Publications

Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.

Kim DT, Rossignol E, Najem K, Ospina LH
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus •

The SCN9A gene codes for the sodium voltage-gated channel NaV 1.7. Gain of function mutations cause pain disorders such as primary erythromelalgia, paroxysmal extreme pain disorder, and small fiber neuropathy. Loss of function mutations lead to congenital insensitivity to pain. We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia.

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An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.

Meijer IA, Vanasse M, Nizard S, Robitaille Y, Rossignol E
Muscle & nerve •

Erythromelalgia due to heterozygous gain-of-function SCN9A mutations usually presents as a pure sensory-autonomic disorder characterized by recurrent episodes of burning pain and redness of the extremities. We describe a patient with an unusual phenotypic presentation of gross motor delay, childhood-onset erythromelalgia, extreme visceral pain episodes, hypesthesia, and self-mutilation. The investigation of the patient's motor delay included various biochemical analyses, a comparative genomic hybridization array (CGH), electromyogram (EMG), and muscle biopsy. Once erythromelalgia was suspected clinically, the SCN9A gene was sequenced. The EMG, CGH, and biochemical tests were negative. The biopsy showed an axonal neuropathy and neurogenic atrophy. Sequencing of SCN9A revealed a heterozygous missense mutation in exon 7; p.I234T. This is a case of global motor delay and erythromelalgia associated with SCN9A. The motor delay may be attributed to the extreme pain episodes or to a developmental perturbation of proprioceptive inputs.

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Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia.

Samuels ME, te Morsche RH, Lynch ME, Drenth JP
Molecular pain •

Hereditary erythermalgia is a painful and debilitating genetic disorder associated with mutations in voltage-gated sodium channel Nav1.7. We have previously reported a Canadian family segregating erythermalgia consistently with a dominant genetic etiology. Molecular analysis of the proband from the family detected two different missense mutations in Nav1.7. In the present study we have performed a long-term follow-up clinical study of disease progression in three affected family members. A more extensive molecular study has also been completed, analyzing the segregation of the two missense variants in the family. The two variants (P610T, L858F) segregate independently with respect to clinical presentation. Detailed genotype/phenotype correlation suggests that one of the two variants (L858F) is causal for erythermalgia. The second variant (P610T) may modify the phenotype in the proband. This is the second reported study of potential compound heterozygosity for coding polymorphisms in Nav1.7, the first being in a patient with paroxysmal extreme pain disorder.

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