Purpose Epileptic encephalopathies (EE), are a group of age-related disorders characterized
by intractable seizures and electroencephalogram (EEG) abnormalities that may result in …

Dystonia is the third most common movement disorder, characterized by abnormal, frequently
twisting postures related to co-contraction of agonist and antagonist muscles. Diagnosis is …

Objectives: To study bowel patterns (function/habits) and its associated variables in an adult
Saudi population. Methods: In a cross sectional study, a 21-item questionnaire on bowel …

Background: Cervical dystonia (CD) is a rare disorder, and health care providers might be
unfamiliar with its presentation, thus leading to delay in the initial diagnosis. The lack of …

Mutations in the GRIN2A gene are associated with epilepsy-aphasia spectrum disorders
and developmental and epileptic encephalopathies. Associations have been linked with …

To study bowel patterns [function/habits] and its associated variables in an adult Saudi
population. In a cross sectional study, a 21-item questionnaire on bowel function [habits and …

… We used the TCGA BRCA database obtainable from Gepia2 and UCSC XENA web servers
to evaluate the expression of fatty acid metabolism genes in clinical samples of BC patients. …

Background: The clinical phenotype of DYT6 consists mainly of primary craniocervical
dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 …

Background: The genetic basis of most forms of primary torsion dystonia (PTD) is unknown;
multiplex families are uncommon due to low penetrance. Intrafamilial, age-related, …

Objective To estimate the prevalence of TOR1A sequence variants associated with DYT1
dystonia. Methods We determined the frequency of the common trinucleotide deletion that …