scholarly journals An early infantile epileptic encephalopathy 19 with dyskinesias due to a new GABRA1 gene mutation – identification of the first case in the Polish population

2017 ◽  
Vol 26 (53) ◽  
pp. 67-70
Author(s):  
Agnieszka Oknińska ◽  
◽  
Hanna Mierzewska ◽  
Robert Śmigiel ◽  
Małgorzata Rydzanicz ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Epileptic Encephalopathy ◽  
Polish Population ◽  
First Case ◽  
Mutation Identification

Severe Epileptic Encephalopathy in Siblings due to a Novel Heterozygous CACNA1A Gene Mutation

2019 ◽  
Author(s):  
Dilbar Mammadova ◽  
Cornelia Kraus ◽  
Thomas Leis ◽  
Regina Trollmann
Keyword(s):  
Gene Mutation ◽  
Epileptic Encephalopathy ◽  
Cacna1a Gene

scholarly journals AB037. The first case of Beare-Stevenson cutis gyrata syndrome with an FGFR2 gene mutation (Tyr375Cys) in Thailand

2017 ◽  
Vol 5 (S2) ◽  
pp. AB037-AB037
Author(s):  
Khunton Wichajarn ◽  
Pakaphan Kiatchoosakul ◽  
Ratana Komwilaisak
Keyword(s):  
Gene Mutation ◽  
First Case ◽  
Fgfr2 Gene

First case of L1CAM gene mutation identified in MASA syndrome in Asia

2005 ◽  
Vol 45 (2) ◽  
pp. 67-69 ◽  
Author(s):  
Yonehiro Kanemura ◽  
Yuuichi Takuma ◽  
Hiroyuki Kamiguchi ◽  
Mami Yamasaki
Keyword(s):  
Gene Mutation ◽  
First Case

scholarly journals Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome

2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2017-224079
Author(s):  
Daphna Prat ◽  
Iris Ben Bassat Mizrachi ◽  
Vicktoria Vishnevskia-Dai
Keyword(s):  
Young Children ◽  
Gene Mutation ◽  
Inflammatory Cells ◽  
Intermediate Uveitis ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Ophthalmic Manifestations ◽  
First Case ◽  
Pars Plana

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital disorder characterised by macrocephaly, multiple hamartomas, lipomas, and pigmented macules of the glans penis. Intermediate uveitis is characterised by chronic inflammatory cells aggregates on the pars plana (snowbanks) and within the vitreous cavity (snowballs). We describe what we believe to be the first case of intermediate uveitis associated with BRRS. Early examination under anaesthesia should be considered in the management of young children diagnosed with this syndrome in order to provide appropriate ocular evaluation, treatment and follow-up. Further research is needed to establish a better understanding of the ophthalmic manifestations of this syndrome.

Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation

Medicine ◽  
2020 ◽  
Vol 99 (22) ◽  
pp. e20507
Author(s):  
Chen Chen ◽  
Yunpeng Hao ◽  
Jianmin Liang ◽  
Xuncan Liu
Keyword(s):  
Gene Mutation ◽  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Congenital Microcephaly

New strategy for the gene mutation identification using surface enhanced Raman spectroscopy (SERS)

2019 ◽  
Vol 132 ◽  
pp. 326-332 ◽  
Author(s):  
Agata Kowalczyk ◽  
Jan Krajczewski ◽  
Artur Kowalik ◽  
Jan L. Weyher ◽  
Igor Dzięcielewski ◽  
...  
Keyword(s):  
Raman Spectroscopy ◽  
Gene Mutation ◽  
Surface Enhanced Raman Spectroscopy ◽  
Surface Enhanced ◽  
New Strategy ◽  
Surface Enhanced Raman ◽  
Mutation Identification
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