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CLN6-related continuum phenotype caused by aberrant splicing.
Epilepsia Open
December 2024
Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life-expectancy. CLN6-related NCLs include both late-infantile and adult myoclonic form. We report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, and subsequently cognitive decline, cortical myoclonus, and photosensitivity at low and higher frequencies.
View Article and Find Full Text PDFGABAR-PPT1 palmitoylation homeostasis controls synaptic transmission and circuitry oscillation.
Transl Psychiatry
December 2024
The Third Affiliated Hospital of Xinxiang Medical University, Xinxiang, He'nan, China.
The infantile neuronal ceroid lipofuscinosis, also called CLN1 disease, is a fatal neurodegenerative disease caused by mutations in the CLN1 gene encoding palmitoyl protein thioesterase 1 (PPT1). Identifying the depalmitoylation substrates of PPT1 is crucial for understanding CLN1 disease. In this study, we found that GABAR, the critical synaptic protein essential for inhibitory neurotransmission, is a substrate of PPT1.
View Article and Find Full Text PDFAngioarchitecture and Endovascular Therapy of Infantile Dural Arteriovenous Fistulas.
Neurol India
November 2024
Department of Neurosurgery, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.
Infantile dural arteriovenous fistula (IDAVF) is a rare complex dural arteriovenous fistulas. This study is to provide a comprehensive understanding of the angioarchitecture of arteriovenous shunts in IDAVFs and planning endovascular treatment. Five cases of IDAVF and a literature review were analyzed to characterize the shunt patterns of IDAVFs in terms of anatomic relations to the arterial feeder, sinuses, and cortical veins.
View Article and Find Full Text PDFNovel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.
Seizure
November 2024
Department of Pediatrics, University of Health Sciences Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey. Electronic address:
Background: HIDEA syndrome (MIM: #618493) is a rare autosomal recessive disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye anomalies. We present the case of a Turkish female with developmental and epileptic encephalopathy, highlighting a novel compound heterozygous variation in the P4HTM gene.
Case Presentation: A 6-year and 11-month-old girl with early infantile epileptic encephalopathy and abnormal eye movements since the neonatal period has been presented to our clinic.
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