Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

Aicardi-Goutières syndrome is a rare genetic neurological disorder with variable clinical manifestations. Molecular detection of specific mutations is required to confirm the diagnosis. The aim of this study was to review the clinical and molecular diagnostic findings in 24 individuals with Aicardi-...

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Veröffentlicht in:	Pediatric neurology 2018-01, Vol.78, p.35-40
Hauptverfasser:	Al Mutairi, Fuad, Alfadhel, Majid, Nashabat, Marwan, El-Hattab, Ayman W., Ben-Omran, Tawfeg, Hertecant, Jozef, Eyaid, Wafaa, Ali, Rehab, Alasmari, Ali, Kara, Majdi, Al-Twaijri, Waleed, Filimban, Rana, Alshenqiti, Abduljabbar, Al-Owain, Mohammed, Faqeih, Eissa, Alkuraya, Fowzan S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aicardi-Goutières syndrome Atrophy - pathology Autoimmune Diseases of the Nervous System - complications Autoimmune Diseases of the Nervous System - genetics Autoimmune Diseases of the Nervous System - pathology Autoimmune Diseases of the Nervous System - physiopathology calcification Child Child, Preschool Consanguinity Epilepsy - etiology Epilepsy - genetics Epilepsy - pathology Epilepsy - physiopathology Female Humans Infant leukodystrophy Libya Male Muscle Spasticity - etiology Muscle Spasticity - genetics Muscle Spasticity - pathology Muscle Spasticity - physiopathology Nervous System Malformations - complications Nervous System Malformations - genetics Nervous System Malformations - pathology Nervous System Malformations - physiopathology Neurodevelopmental Disorders - etiology Neurodevelopmental Disorders - genetics Neurodevelopmental Disorders - physiopathology Qatar Ribonucleases - genetics Saudi Arabia Seizures - etiology Seizures - genetics Seizures - pathology Seizures - physiopathology TREX-1 United Arab Emirates White Matter - pathology
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