A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia-Reference-Cited by-同舟云学术

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

Published:2018-07-23 Issue:3 Volume:23 Page:202-206
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Marchi Margherita¹,Provitera Vincenzo²,Nolano Maria²³,Romano Marcello⁴,Maccora Simona⁵,D'Amato Ilaria¹,Salvi Erika¹⁶,Gerrits Monique⁷,Santoro Lucio³,Lauria Giuseppe¹⁸^ORCID

Affiliation:

1. Neuroalgology UnitIRCCS Foundation “Carlo Besta” Neurological Institute Milan Italy

2. Neurology DepartmentIstituti Clinici Scientifici Maugeri, IRCCS Telese Terme Benevento Italy

3. Department of Neurosciences, Reproductive Sciences and OdontostomatologyUniversity Federico II Naples Italy

4. Department of NeurologyAOOR Villa Sofia Cervello Palermo Italy

5. IRCCS “Bonino‐Pulejo” Messina Italy

6. Department of Health SciencesUniversity of Milan Milan Italy

7. Clinical Genetics and Department of NeurologyMaastricht University Medical Center Maastricht The Netherlands

8. Department of Biomedical and Clinical Sciences “Luigi Sacco”University of Milan Milan Italy

Funder

FP7 Health

H2020 Marie Skłodowska-Curie Actions

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12280

Reference21 articles.

1. New Mendelian Disorders of Painlessness

2. A CASE OF CONGENITAL GENERAL PURE ANALGESIA

3. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

4. A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)

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