[PDF][PDF] SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

CR Fertleman, MD Baker, KA Parker, S Moffatt… - Neuron, 2006 - cell.com
Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, or
OMIM 167400), is an inherited condition characterized by paroxysms of rectal, ocular, or …

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

MA Simpson, MD Irving, E Asilmaz, MJ Gray, D Dafou… - Nature …, 2011 - nature.com
We used an exome-sequencing strategy and identified an allelic series of NOTCH2
mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder …

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

DA Koolen, JM Kramer, K Neveling, WM Nillesen… - Nature …, 2012 - nature.com
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21. 31
microdeletion syndrome, a multisystem disorder characterized by intellectual disability …

[PDF][PDF] De novo mutations in MLL cause Wiedemann-Steiner syndrome

WD Jones, D Dafou, M McEntagart, WJ Woollard… - The American Journal of …, 2012 - cell.com
Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been
reported both in isolation and in association with a variable spectrum of associated …

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

FV Elmslie, M Rees, MP Williamson… - Human Molecular …, 1997 - academic.oup.com
The epilepsies are a group of disorders characterised by recurrent seizures caused by
episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people …

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

CR Fertleman, CD Ferrie, J Aicardi, NAF Bednarek… - Neurology, 2007 - AAN Enterprises
Objective: To describe the clinical phenotype of paroxysmal extreme pain disorder
(previously called familial rectal pain syndrome), an autosomal dominant condition recently …

Long‐term cognitive outcomes in tuberous sclerosis complex

C Tye, FS Mcewen, H Liang… - … Medicine & Child …, 2020 - Wiley Online Library
Aim To investigate the interdependence between risk factors associated with long‐term
intellectual development in individuals with tuberous sclerosis complex (TSC). Method The …

A new Nav1. 7 sodium channel mutation I234T in a child with severe pain

HS Ahn, SD Dib-Hajj, JJ Cox, L Tyrrell, FV Elmslie… - European journal of …, 2010 - Elsevier
Dominant gain-of-function mutations that hyperpolarize activation of the Nav1. 7 sodium
channel have been linked to inherited erythromelalgia (IEM), a disorder characterized by …

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

FV Elmslie, SM Hutchings, V Spencer… - Journal of medical …, 1996 - jmg.bmj.com
Hyperekplexia is a rare condition characterised by the presence of neonatal hypertonia and
an exaggerated startle response. Mutations have been described in GLRA1, the gene …

Alagille syndrome: family studies.

FV Elmslie, AJ Vivian, H Gardiner, C Hall… - Journal of Medical …, 1995 - jmg.bmj.com
Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with
severe morbidity and a mortality of 10 to 20%. It is characterised by cholestasis of variable …