Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

By |2017-02-17T18:00:21-05:00February 17th, 2017|Categories: DSF Research Review|Tags: , , |

(Cetica, 2017). Now that genetic testing is becoming more common and less expensive, more infants under 12 months are being tested for SCN1A mutations. For infants who are positive for SCN1A mutations, the question of how those mutations will present clinically remains to be answered at such a young age. In this study of medical [...]

Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features

By |2017-02-10T23:48:00-05:00February 10th, 2017|Categories: DSF Research Review|Tags: , |

(Aljaafari, et. al. 2017). In this brief communication, published in Epilepsia, the authors examined the motor differences between 14 adult patients with Dravet syndrome (DS) and 14 adult patients with Lennox-Gastaut syndrome (LGS). They chose Lennox-Gastaut because previous findings showed that adult patients with DS exhibited early-onset parkinsonian features, and they wanted to determine whether [...]

Dysarthria and broader motor speech deficits in Dravet syndrome

By |2017-02-05T18:08:38-05:00February 5th, 2017|Categories: DSF Research Review|Tags: , |

(Turner, et. al, 2017). This study, published in Neurology, examined the speech patterns of 20 patients with Dravet syndrome who had SCN1A mutations (inherited in 3 cases) by employing standardized assessments for speech and language. The authors found distinct features including oral motor impairment, imprecise articulation of consonants and vowels, and impairment in both receptive and [...]