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Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysos...
Abstract Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe... -
Nosological delineation of congenital ocular motor apraxia type Cogan: an obs...
Abstract Background The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some... -
SRF modulates seizure occurrence, activity induced gene transcription and hip...
Abstract A hallmark of temporal lobe epilepsy (TLE) is hippocampal neuronal demise and aberrant mossy fiber sprouting. In addition, unrestrained neuronal activity in TLE...