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12 results on '"Ubeyratna, Nishanka"'

3. Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Author

Rawlins, Lettie E., Maroofian, Reza, Cannon, Stuart J., Daana, Muhannad, Zamani, Mina, Ghani, Shamsul, Leslie, Joseph S., Ubeyratna, Nishanka, Khan, Nasar, Khan, Hamid, Scardamaglia, Annarita, Cloarec, Robin, Khan, Shujaat Ali, Umair, Muhammad, Sadeghian, Saeid, Galehdari, Hamid, Al-Maawali, Almundher, Al-Kindi, Adila, Azizimalamiri, Reza, Shariati, Gholamreza, Ahmad, Faraz, Al-Futaisi, Amna, Rodriguez Cruz, Pedro M., Salazar-Villacorta, Ainara, Ndiaye, Moustapha, Diop, Amadou G., Sedaghat, Alireza, Saberi, Alihossein, Hamid, Mohammad, Zaki, Maha S., Vona, Barbara, Owrang, Daniel, Alhashem, Abdullah M., Obeid, Makram, Khan, Amjad, Beydoun, Ahmad, Najjar, Marwan, Tajsharghi, Homa, Zifarelli, Giovanni, Bauer, Peter, Hakami, Wejdan S., Al Hashem, Amal M., Boustany, Rose-Mary N., Burglen, Lydie, Alavi, Shahryar, Gunning, Adam C., Owens, Martina, Karimiani, Ehsan G., Gleeson, Joseph G., Milh, Mathieu, Salah, Somaya, Khan, Jahangir, Haucke, Volker, Wright, Caroline F., McGavin, Lucy, Elpeleg, Orly, Shabbir, Muhammad I., Houlden, Henry, Ebner, Michael, Baple, Emma L., and Crosby, Andrew H.

Published
2024
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4. TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine

Author

Khalaf‐Nazzal, Reham, primary, Dweikat, Imad, additional, Ubeyratna, Nishanka, additional, Fasham, James, additional, Alawneh, Maysa, additional, Leslie, Joseph, additional, Maree, Mosab, additional, Gunning, Adam, additional, Zayed, Deyala Z., additional, Voutsina, Nikol, additional, McGavin, Lucy, additional, Sawafta, Reem, additional, Owens, Martina, additional, Baker, Wisam, additional, Turnpenny, Peter, additional, Al‐Hijawi, Fida’, additional, Baple, Emma L., additional, Crosby, Andrew H., additional, and Rawlins, Lettie E., additional

Published
2024
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6. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

Author

Fasham, James, primary, Huebner, Antje K, additional, Liebmann, Lutz, additional, Khalaf-Nazzal, Reham, additional, Maroofian, Reza, additional, Kryeziu, Nderim, additional, Wortmann, Saskia B, additional, Leslie, Joseph S, additional, Ubeyratna, Nishanka, additional, Mancini, Grazia M S, additional, van Slegtenhorst, Marjon, additional, Wilke, Martina, additional, Haack, Tobias B, additional, Shamseldin, Hanan, additional, Gleeson, Joseph G, additional, Almuhaizea, Mohamed, additional, Dweikat, Imad, additional, Abu-Libdeh, Bassam, additional, Daana, Muhannad, additional, Zaki, Maha S, additional, Wakeling, Matthew N, additional, McGavin, Lucy, additional, Turnpenny, Peter D, additional, Alkuraya, Fowzan S, additional, Houlden, Henry, additional, Schlattmann, Peter, additional, Kaila, Kai, additional, Crosby, Andrew H, additional, Baple, Emma L, additional, and Hübner, Christian A, additional

Published
2023
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7. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

Author

Fasham, James, Huebner, Antje K., Liebmann, Lutz, Khalaf-Nazzal, Reham, Maroofian, Reza, Kryeziu, Nderim, Wortmann, Saskia B., Leslie, Joseph S., Ubeyratna, Nishanka, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Wilke, Martina, Haack, Tobias B., Shamseldin, Hanan E., Gleeson, Joseph G., Almuhaizea, Mohamed, Dweikat, Imad, Abu-Libdeh, Bassam, Daana, Muhannad, Zaki, Maha S., Wakeling, Matthew N., McGavin, Lucy, Turnpenny, Peter D., Alkuraya, Fowzan S., Houlden, Henry, Schlattmann, Peter, Kaila, Kai, Crosby, Andrew H., Baple, Emma L., Hübner, Christian A., Fasham, James, Huebner, Antje K., Liebmann, Lutz, Khalaf-Nazzal, Reham, Maroofian, Reza, Kryeziu, Nderim, Wortmann, Saskia B., Leslie, Joseph S., Ubeyratna, Nishanka, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Wilke, Martina, Haack, Tobias B., Shamseldin, Hanan E., Gleeson, Joseph G., Almuhaizea, Mohamed, Dweikat, Imad, Abu-Libdeh, Bassam, Daana, Muhannad, Zaki, Maha S., Wakeling, Matthew N., McGavin, Lucy, Turnpenny, Peter D., Alkuraya, Fowzan S., Houlden, Henry, Schlattmann, Peter, Kaila, Kai, Crosby, Andrew H., Baple, Emma L., and Hübner, Christian A.

Abstract

SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive cellular HCO3- uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is expressed in principal neurons and interneurons, as well as in epithelial cells of the choroid plexus, the organ regulating the production of CSF. Using next generation sequencing on samples from five unrelated families encompassing nine affected individuals, we show that biallelic SLC4A10 loss-of-function variants cause a clinically recognizable neurodevelopmental disorder in humans. The cardinal clinical features of the condition include hypotonia in infancy, delayed psychomotor development across all domains and intellectual impairment. Affected individuals commonly display traits associated with autistic spectrum disorder including anxiety, hyperactivity and stereotyped movements. In two cases isolated episodes of seizures were reported in the first few years of life, and a further affected child displayed bitemporal epileptogenic discharges on EEG without overt clinical seizures. While occipitofrontal circumference was reported to be normal at birth, progressive postnatal microcephaly evolved in 7 out of 10 affected individuals. Neuroradiological features included a relative preservation of brain volume compared to occipitofrontal circumference, characteristic narrow sometimes 'slit-like' lateral ventricles and corpus callosum abnormalities. Slc4a10 -/- mice, deficient for SLC4A10, also display small lateral brain ventricles and mild behavioural abnormalities including delayed habituation and alterations in the two-object novel object recognition task. Collapsed brain ventricles in both Slc4a10-/- mice and affected individuals suggest an important role of SLC4A10 in the production of the CSF. However, it is notable that despite diverse roles of the CSF in the developing and adult brain, the cortex of Slc4a10-/- mice appears grossly intact. Co-staining with synaptic markers revealed tha

Published
2023

8. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

Author

Khalaf-Nazzal, Reham, primary, Fasham, James, additional, Inskeep, Katherine A., additional, Blizzard, Lauren E., additional, Leslie, Joseph S., additional, Wakeling, Matthew N., additional, Ubeyratna, Nishanka, additional, Mitani, Tadahiro, additional, Griffith, Jennifer L., additional, Baker, Wisam, additional, Al-Hijawi, Fida’, additional, Keough, Karen C., additional, Gezdirici, Alper, additional, Pena, Loren, additional, Spaeth, Christine G., additional, Turnpenny, Peter D., additional, Walsh, Joseph R., additional, Ray, Randall, additional, Neilson, Amber, additional, Kouranova, Evguenia, additional, Cui, Xiaoxia, additional, Curiel, David T., additional, Pehlivan, Davut, additional, Akdemir, Zeynep Coban, additional, Posey, Jennifer E., additional, Lupski, James R., additional, Dobyns, William B., additional, Stottmann, Rolf W., additional, Crosby, Andrew H., additional, and Baple, Emma L., additional

Published
2022
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9. Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Author

Leslie, Joseph S., primary, Hjeij, Rim, additional, Vivante, Asaf, additional, Bearce, Elizabeth A., additional, Dyer, Laura, additional, Wang, Jiaolong, additional, Rawlins, Lettie, additional, Kennedy, Joanna, additional, Ubeyratna, Nishanka, additional, Fasham, James, additional, Irons, Zoe H., additional, Craig, Samuel B., additional, Koenig, Julia, additional, George, Sebastian, additional, Pode-Shakked, Ben, additional, Bolkier, Yoav, additional, Barel, Ortal, additional, Mane, Shrikant, additional, Frederiksen, Kathrine K., additional, Wenger, Olivia, additional, Scott, Ethan, additional, Cross, Harold E., additional, Lorentzen, Esben, additional, Norris, Dominic P., additional, Anikster, Yair, additional, Omran, Heymut, additional, Grimes, Daniel T., additional, Crosby, Andrew H., additional, and Baple, Emma L., additional

Published
2022
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10. Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

Author

Khalaf-Nazzal, Reham, primary, Fasham, James, additional, Ubeyratna, Nishanka, additional, Evans, David J., additional, Leslie, Joseph S., additional, Warner, Thomas T., additional, Al-Hijawi, Fida’, additional, Alshaer, Shurouq, additional, Baker, Wisam, additional, Turnpenny, Peter D., additional, Baple, Emma L., additional, and Crosby, Andrew H., additional

Published
2021
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11. Biallelic DAW1variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Author

Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., and Baple, Emma L.

Abstract

The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.

Published
2022
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12. Consolidating biallelic SDHDvariants as a cause of mitochondrial complex II deficiency

Author

Lin, Siying, Fasham, James, Al-Hijawi, Fida’, Qutob, Nouar, Gunning, Adam, Leslie, Joseph S., McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D., Crosby, Andrew H., Baple, Emma L., and Khalaf-Nazzal, Reham

Abstract

Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochondrial disease (SDHA/SDHB/SDHAF1). Additionally, variants in one further complex II component (SDHD) have been identified as a candidate cause of isolated mitochondrial complex II deficiency in just two unrelated affected individuals with clinical features consistent with mitochondrial disease, including progressive encephalomyopathy and lethal infantile cardiomyopathy. We present clinical and genomic investigations in four individuals from an extended Palestinian family with clinical features consistent with an autosomal recessive mitochondrial complex II deficiency, in which our genomic studies identified a homozygous NM_003002.3:c.[205 G > A];[205 G > A];p.[(Glu69Lys)];[(Glu69Lys)] SDHDvariant as the likely cause. Reviewing previously published cases, these findings consolidate disruption of SDHD function as a cause of mitochondrial complex II deficiency and further define the phenotypic spectrum associated with SDHDgene variants.

Published
2021
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