Polymicrogyria and GRIN1 mutations: altered connections, altered excitability

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were ext...

Altered Receptors

Receptor disorders may produce specific clinical manifestations resembling hypo-or hyper-function of related endocrine gland. Receptor disorders can be divided into five categories: 1)Altered receptor concentration exists in insulin resistance seen in obsity, familial hypercholes­terolemia and in testicular feminization. 2) Altered receptor affinity can be seen in fasted obese patients, acromeg...

Altered Neuronal and Circuit Excitability in Fragile X Syndrome

Fragile X syndrome (FXS) results from a genetic mutation in a single gene yet produces a phenotypically complex disorder with a range of neurological and psychiatric problems. Efforts to decipher how perturbations in signaling pathways lead to the myriad alterations in synaptic and cellular functions have provided insights into the molecular underpinnings of this disorder. From this large body ...

A clinical outcome comparison of the conventional altered cast impression with a modification altered cast impression technique

A clinical outcome comparison of the conventional altered cast impression with a modification altered cast impression technique Dr. M. Farzin *- Dr. F. Bahrani ** - Dr. A. Zareie *** *Assistant Professor of Prosthodontics Dept., Faculty of Dentistry, Shiraz University of Medical Sciences. **Clinical Instructor of Prosthodontics Dept., Faculty of Dentistry, Shiraz University of Medical Sciences....

postdengue weakness and altered sensorium