1 (4.0%) |
25903274
(4414864)
|
Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.
Imai N, Miyake N, Saito Y, Kobayashi E, Ikawa M, Manaka S, Shiina M, Ogata K, Matsumoto N.
J Headache Pain. 2015;16:519.
|
Headache
|
SCN9A
|
c|SUB|G|5218|C
p|SUB|V|1740|L
|
Child, Preschool
Cluster Headache
DNA Mutational Analysis
Females
Flushing
Headache
Homo sapiens
Mutation
NAV1.7 Voltage-Gated Sodium Channel
Pain
Rectum
|
1 (4.0%) |
24817410
|
Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder.
Megli A, Perkovi-Benedik M, Trebuak Podkrajek K, Bertok S.
Pediatr Nephrol. 2014;29(9):1643-6.
|
Sensory neuropathy
|
|
c|SUB|G|554|A;RS#:73969684
p|SUB|R|185|H;RS#:73969684
rs73969684
|
Analgesics, Non-Narcotic
Base Sequence
Child, Preschool
Females
Homo sapiens
Missense Mutation
Molecular Sequence Data
NAV1.7 Voltage-Gated Sodium Channel
Pain
Rectum
Urination
Urination Disorders
|
1 (4.0%) |
23129781
(3594382)
|
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ.
J Neurol Neurosurg Psychiatry. 2013;84(4):386-91.
|
Sensory neuropathy
|
SCN9A
|
c|DEL|IVS24-7|GTTT
c|SUB|A|IVS8-2|G
p|SUB|P|610|T;RS#:41268673
p|SUB|Q|10|K
p|SUB|R|523|X
rs121908919
rs41268673
rs6746030
rs6754031
rs77944059
|
Adult
Age of Onset
Alternative Splicing
Biopsy
Child
Child, Preschool
Cohort Studies
Congenital Pain Insensitivity
Databases, Genetic
Electron Microscopy
Erythromelalgia
Exons
Females
Gene Frequency
Homo sapiens
Male
Middle Aged
Mutation
NAV1.7 Voltage-Gated Sodium Channel
Nerve Fibers
Neurologic Examination
Single Nucleotide Polymorphism
Skin
Young Adult
|
1 (4.0%) |
21094958
|
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.
Dabby R, Sadeh M, Gilad R, Lampl Y, Cohen S, Inbar S, Leshinsky-Silver E.
J Neurol Sci. 2011;301(1-2):90-2.
|
Erythromelalgia
|
PEPD
SCN9A
|
p|SUB|W|1550|R
rs202084411
rs6190
|
Amino Acid Sequence
Amino Acid Substitution
Conserved Sequence
DNA Mutational Analysis
Exons
Females
Heterozygote
Homo sapiens
Jews
Missense Mutation
Models, Molecular
Molecular Sequence Data
Mutant Proteins
NAV1.7 Voltage-Gated Sodium Channel
Neuralgia
Phenotype
Point Mutation
Sequence Alignment
Sequence Homology, Amino Acid
Sodium Channel
|
1 (4.0%) |
21079636
|
Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons.
Choi JS, Boralevi F, Brissaud O, Sanchez-Martin J, Te Morsche RH, Dib-Hajj SD, Drenth JP, Waxman SG.
Nat Rev Neurol. 2011;7(1):51-5.
|
Flushing
|
IGLV2-23
SCN9A
|
p|SUB|G|1607|R
|
Homo sapiens
Infant
Male
Mutation
NAV1.7 Voltage-Gated Sodium Channel
Neuralgia
Sodium Channel
|
1 (4.0%) |
18803825
(2556659)
|
Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.
Dib-Hajj SD, Estacion M, Jarecki BW, Tyrrell L, Fischer TZ, Lawden M, Cummins TR, Waxman SG.
Mol Pain. 2008;4:37.
|
Flushing
|
SCN9A
|
p|SUB|M|1627|K
|
Action Potentials
Adult
Amino Acid Substitution
Animals
Females
Ganglia, Spinal
Homo sapiens
Hyperalgesia
Male
Missense Mutation
NAV1.7 Voltage-Gated Sodium Channel
Neurons
Pain
Rats, Sprague-Dawley
Rattus
Sodium Channel
Spinal Cord Injuries
|
1 (4.0%) |
16338680
|
Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby.
Bednarek N, Arbues AS, Motte J, Sabouraud P, Plouin P, Morville P.
Epileptic Disord. 2005;7(4):360-2.
|
Bradycardia
|
|
|
Anticonvulsants
Apnea
Bradycardia
Bronchospasm
Conjunctival Diseases
Differential Diagnosis
Epilepsy, Generalized
Flushing
Food
Genes, Dominant
Homo sapiens
Infant, Newborn
Male
Pain
Rectal Diseases
Sialorrhea
Syncope
Syndrome
|