Serum progranulin level in a subject carrying 'predicted' pathogenic PGRN mutation p.R564C [2011] - 188KB
by HJ Kim, Beom, JY Yun, YE Kim
Although most of the known pathogenic mutations in the progranulin gene (PGRN) are null mutations leading to a reduction in the serum PGRN protein levels, missense mutations also have been identified ...

Varicella-zoster virus and exertional headache: Evidence of viral vasculopathy in Valsalva maneuver-related headache syndrome [2011] - 842KB
by WH Chen, CH Peng, CC Lui, HL Yin
Exertional headache is one entity of Valsalva maneuver-related headache syndrome. It is usually idiopathic, but has occasionally been reported to be associated with secondary causes. However, central ...

Reversible cold-stimulus headache after thalamic hemorrhage: A report of two cases [2011] - 369KB
by TH Li, LH Lee, WH Chen
Cold-stimulus headache is a primary headache syndrome which is provoked by an external application or ingestion or inhalation of cold stimulus. It has not been reported to occur secondary to another f...

Can epilepsy be prevented? [2011] - 227KB
by T Ono, SL Moshé
The development of epilepsy may be related to genetic and epigenetic factors often in combination with non-genetically determined structural brain abnormalities. Prevention of epileptogenesis (i.e., a...

Heredity in epilepsy – An historical overview [2011] - 182KB
by S Shorvon
This paper provides an overview of the concepts of the genetic causation of epilepsy from 1860 to the present day, and an appreciation of the impact of these concepts today. The paper is a summary of ...

Genetics of large populations in epilepsy: Association studies – Trials and tribulations [2011] - 91KB
by NCK Tan
Unlike Mendelian epilepsies, complex epilepsies may be due to the effect of several or multiple susceptibility genes. Association studies have been used in the past decade to help identify common gene...

Consanguinity and inherited epilepsies [2011] - 76KB
by S Jain
As a working definition, unions contracted between persons biologically related as second cousins or closer are categorized as consanguineous. The offspring of consanguineous relationships are at grea...

Epilepsy in head injury [2011] - 110KB
by BM Selladurai
Posttraumatic epilepsy accounts for about 20% of symptomatic epilepsy in the general population and about 5% patients referred to epilepsy centers. Mechanisms that can provoke posttraumatic seizures a...

Epilepsies due to perinatal brain injuries: Focus on prevention [2011] - 100KB
by V Udani
Epilepsy due to perinatal brain injury remains an important problem in developing countries. Brain injury can be prominent in perinatal asphyxia, neonatal hypoglycemia, sepsis- meningitis, late hemorr...

Tuberous sclerosis complex and the mTOR pathway [2011] - 175KB
by KJ Kim
Tuberous sclerosis complex (TSC) is a neurocutaneous disease characterized by the growth of hamartomas in many tissues and organs. The most prominent neurological manifestation of TSC is epileptic sei...