The Experts below are selected from a list of 27 Experts worldwide ranked by ideXlab platform

Daham De Silva - One of the best experts on this subject based on the ideXlab platform.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    BMC pediatrics, 2018
    Co-Authors: Kathleen A. Williamson, Daham De Silva, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Harendra De Silva
    Abstract:

    Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
    BMC, 2018
    Co-Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva
    Abstract:

    Abstract Background Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. Case presentation A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. Conclusion The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members

Harendra De Silva - One of the best experts on this subject based on the ideXlab platform.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    BMC pediatrics, 2018
    Co-Authors: Kathleen A. Williamson, Daham De Silva, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Harendra De Silva
    Abstract:

    Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
    BMC, 2018
    Co-Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva
    Abstract:

    Abstract Background Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. Case presentation A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. Conclusion The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members

Kathleen A. Williamson - One of the best experts on this subject based on the ideXlab platform.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    BMC pediatrics, 2018
    Co-Authors: Kathleen A. Williamson, Daham De Silva, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Harendra De Silva
    Abstract:

    Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
    BMC, 2018
    Co-Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva
    Abstract:

    Abstract Background Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. Case presentation A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. Conclusion The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members

Kavinda Dayasiri - One of the best experts on this subject based on the ideXlab platform.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    BMC pediatrics, 2018
    Co-Authors: Kathleen A. Williamson, Daham De Silva, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Harendra De Silva
    Abstract:

    Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
    BMC, 2018
    Co-Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva
    Abstract:

    Abstract Background Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. Case presentation A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. Conclusion The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members

Nayani Suraweera - One of the best experts on this subject based on the ideXlab platform.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    BMC pediatrics, 2018
    Co-Authors: Kathleen A. Williamson, Daham De Silva, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Harendra De Silva
    Abstract:

    Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.

  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
    BMC, 2018
    Co-Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva
    Abstract:

    Abstract Background Gillespie syndrome is a rare, Congenital, Neurological Disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. Case presentation A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. Conclusion The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and Neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members