The Experts below are selected from a list of 1914 Experts worldwide ranked by ideXlab platform

Wendy Keaybrigh - One of the best experts on this subject based on the ideXlab platform.

Muhammad Fakri Othma - One of the best experts on this subject based on the ideXlab platform.

Samuel Frank Berkovic - One of the best experts on this subject based on the ideXlab platform.

  • autosomal dominant rolandic epilepsy and speech Dyspraxia a new syndrome with anticipation
    Annals of Neurology, 1995
    Co-Authors: Ingrid E Scheffer, R A Howell, Marlei Pozzebon, Michael M Saling, L Jones, Samuel Frank Berkovic
    Abstract:

    We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech Dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant rolandic epilepsy resemble those of benign rolandic epilepsy, a common inherited epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech Dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign rolandic epilepsy where anticipation does not occur and the mode of inheritance is uncertain.

Stephe W Schere - One of the best experts on this subject based on the ideXlab platform.

  • speech and language impairment and oromotor Dyspraxia due to deletion of 7q31 that involves foxp2
    American Journal of Medical Genetics Part A, 2006
    Co-Authors: Susa Zeesma, Malgorzata J M Nowaczyk, Ikuko Teshima, Wendy Roberts, Janis Oram Cardy, Lili Senma, Lars Feuk, Lucy R Osborne, Stephe W Schere
    Abstract:

    We report detailed clinical, cytogenetic, and molecular findings in a girl with a deletion of chromosome 7q31-q32. This child has a severe communication disorder with evidence of oromotor Dyspraxia, dysmorphic features, and mild developmental delay. She is unable to cough, sneeze, or laugh spontaneously. Her deletion is on the paternally inherited chromosome and includes the FOXP2 gene, which has recently been associated with speech and language impairment and a similar form of oromotor Dyspraxia in at least three other published cases. We hypothesize that our patient's communication disorder and oromotor deficiency are due to haploinsufficiency for FOXP2 and that her dysmorphism and developmental delay are a consequence of the absence of the other genes involved in the microdeletion. We propose that this patient, together with others reported in the literature, may define a new contiguous gene deletion syndrome encompassing the 7q31-FOXP2 region. Cytogenetic and molecular analysis of this region should be considered for other individuals displaying similar characteristics. © 2006 Wiley-Liss, Inc.

Ingrid E Scheffer - One of the best experts on this subject based on the ideXlab platform.

  • autosomal dominant rolandic epilepsy and speech Dyspraxia a new syndrome with anticipation
    Annals of Neurology, 1995
    Co-Authors: Ingrid E Scheffer, R A Howell, Marlei Pozzebon, Michael M Saling, L Jones, Samuel Frank Berkovic
    Abstract:

    We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech Dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant rolandic epilepsy resemble those of benign rolandic epilepsy, a common inherited epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech Dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign rolandic epilepsy where anticipation does not occur and the mode of inheritance is uncertain.