Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.

Stendel, Claudia; Wagner, Matias; Rudolph, Guenther; Klopstock, Thomas

Stendel, Claudia; Wagner, Matias; Rudolph, Guenther; Klopstock, Thomas.

Affiliation

Stendel C; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.
Wagner M; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
Rudolph G; Helmholtz Center Munich, German Research Center for Environmental Health, Institute of Neurogenomics, Neuherberg, Germany.
Klopstock T; Institute of Human Genetics, Technische Universität München, Munich, Germany.

Neuropediatrics ; 50(6): 382-386, 2019 12.

Article in En | MEDLINE | ID: mdl-31340402

Subject(s)

Aniridia/genetics; Aniridia/physiopathology; Cerebellar Ataxia/genetics; Cerebellar Ataxia/physiopathology; Cerebellum/physiopathology; Inositol 1,4,5-Trisphosphate Receptors/genetics; Intellectual Disability/genetics; Intellectual Disability/physiopathology; Atrophy; Cerebellum/pathology; Gait Disorders, Neurologic/etiology; Glutamic Acid/metabolism; Humans; Infant; Male; Mutation/genetics; Mutation, Missense/genetics; Pedigree

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Cerebellar Ataxia / Cerebellum / Inositol 1,4,5-Trisphosphate Receptors / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Infant / Male Language: En Journal: Neuropediatrics Year: 2019 Type: Article Affiliation country: Germany

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