University of Padua

education đź“Ť Padua, Italy
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University of Padua
2
EM Publications
5
EM Researchers

Associated Institutions

Istituto Nazionale di Fisica Nucleare, Sezione di Padova
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European Marine Biological Resource Centre
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Erythromelalgia Researchers

Bolzon A
1 EM publication • h-index: 3
Alessia Guidotti A
1 EM publication • h-index: 2
Alaibac MAS
1 EM publication • h-index: 1
Parodi A
1 EM publication • h-index: 53
Pietrobon D
1 EM publication • h-index: 52

Publications

Osimertinib‑induced erythromelalgia: A case report.

Bolzon A, Alessia Guidotti A, Alaibac MAS
Experimental and therapeutic medicine •

The present study reports a case of osimertinib-induced erythromelalgia in a patient with metastatic lung adenocarcinoma. Osimertinib is an antineoplastic drug that irreversibly inhibits the epidermal growth factor receptor (EGFR) pathway by binding to the intracellular receptor tyrosine kinase site, thus preventing EGFR signal transduction. A 77-year-old female with a lung adenocarcinoma recurrence with secondary metastases was prescribed osimertinib therapy. The patient presented with painful erythema and warmth in the distal phalanges of all fingers on both hands, which worsened with heat and relieved with cold. Based on clinical data, erythromelalgia was diagnosed. Considering the age of onset, a primary erythromelalgia was ruled out. Further investigations excluded other secondary causes of erythromelalgia, therefore osimertinib was suspected as the cause. Although no cases of EGFR inhibitor-induced erythromelalgia have been reported, cutaneous adverse events induced by EGFR inhibitors have been documented. The present case may be the first evidence of osimertinib-induced erythromelalgia and may help clinicians to properly support patients who develop this EGFR inhibitor adverse event.

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Inherited neuronal ion channelopathies: new windows on complex neurological diseases.

Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D
The Journal of neuroscience : the official journal of the Society for Neuroscience •

Studies of genetic forms of epilepsy, chronic pain, and migraine caused by mutations in ion channels have given crucial insights into molecular mechanisms, pathogenesis, and therapeutic approaches to complex neurological disorders. Gain-of-function missense mutations in the brain type-I sodium channel Na(V)1.1 are a primary cause of generalized epilepsy with febrile seizures plus. Loss-of-function mutations in Na(V)1.1 channels cause severe myoclonic epilepsy of infancy, an intractable childhood epilepsy. Studies of a mouse model show that this disease is caused by selective loss of sodium current and excitability of GABAergic inhibitory interneurons, which leads to hyperexcitability, epilepsy, and ataxia. Mutations in the peripheral sodium channel Na(V)1.7 cause familial pain syndromes. Gain-of-function mutations cause erythromelalgia and paroxysmal extreme pain disorder as a result of hyperexcitability of sensory neurons, whereas loss-of-function mutations cause congenital indifference to pain because of attenuation of action potential firing. These experiments have defined correlations between genotype and phenotype in chronic pain diseases and focused attention on Na(V)1.7 as a therapeutic target. Familial hemiplegic migraine is caused by mutations in the calcium channel, Ca(V)2.1, which conducts P/Q-type calcium currents that initiate neurotransmitter release. These mutations increase activation at negative membrane potentials and increase evoked neurotransmitter release at cortical glutamatergic synapses. Studies of a mouse genetic model show that these gain-of-function effects lead to cortical spreading depression, aura, and potentially migraine. Overall, these experiments indicate that imbalance in the activity of excitatory and inhibitory neurons is an important underlying cause of these diseases.

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