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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 13, 2025. (Total: 235230Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Intellectual Disability and SCN1A[original query]
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
Epilepsia 2015 Mar 56 (3): e26-32.
Hartmann Corinna, von Spiczak Sarah, Suls Arvid, Weckhuysen Sarah, Buyse Gunnar, Vilain Catheline, Van Bogaert Patrick, De Jonghe Peter, Cook Joseph, Muhle Hiltrud, Stephani Ulrich, Helbig Ingo, Mefford Heather
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.
Journal of clinical neurology (Seoul, Korea) 2017 1 13 (1): 62-70.
Do Thi Thu Hang, Vu Diem My, Huynh Thi Thuy Kieu, Le Thi Khanh Van, Sohn Eun Hwa, Le Thieu Mai Thao, Ha Huu Hao, Bui Chi B
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
Frontiers in neurology 2019 10 505.
Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang
Clinical and genetic characteristics of patients with Doose syndrome.
Epilepsia open 2020 9 5 (3): 442-450.
Hinokuma Nodoka, Nakashima Mitsuko, Asai Hideyuki, Nakamura Kazuyuki, Akaboshi Shinjiro, Fukuoka Masataka, Togawa Masami, Oana Shingo, Ohno Koyo, Kasai Mariko, Ogawa Chikako, Yamamoto Kazuna, Okumiya Kiyohito, Chong Pin Fee, Kira Ryutaro, Uchino Shumpei, Fukuyama Tetsuhiro, Shinagawa Tomoe, Miyata Yohane, Abe Yuichi, Hojo Akira, Kobayashi Kozue, Maegaki Yoshihiro, Ishikawa Nobutsune, Ikeda Hiroko, Amamoto Masano, Mizuguchi Takeshi, Iwama Kazuhiro, Itai Toshiyuki, Miyatake Satoko, Saitsu Hirotomo, Matsumoto Naomichi, Kato Mitsuhi
High genetic burden in 163 Chinese children with status epilepticus.
Seizure 2020 12 84 40-46.
Wang Tianqi, Wang Ji, Ma Yu, Zhou Hao, Ding Ding, Li Chunpei, Du Xiaonan, Jiang Yong-Hui, Wang Yi, Long Shasha, Li Shuang, Lu Guoping, Chen Weiming, Zhou Yuanfeng, Zhou Shuizhen, Wang
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Neurology 2022 Jan .
Brunklaus Andreas, Pérez-Palma Eduardo, Ghanty Ismael, Xinge Ji, Brilstra Eva, Ceulemans Berten, Chemaly Nicole, de Lange Iris, Depienne Christel, Guerrini Renzo, Mei Davide, Møller Rikke S, Nabbout Rima, Regan Brigid M, Schneider Amy L, Scheffer Ingrid E, Schoonjans An-Sofie, Symonds Joseph D, Weckhuysen Sarah, Kattan Michael W, Zuberi Sameer M, Lal Denn
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
Gene 2023 12 897 148071.
Nan Pang, Kuokuo Li, Senwei Tan, Meilin Chen, Fang He, Chen Chen, Lifen Yang, Ciliu Zhang, Xiaolu Deng, Li Yang, Leilei Mao, Guoli Wang, Haolin Duan, Xiaole Wang, Wen Zhang, Hui Guo, Jing Peng, Fei Yin, Kun X
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2024 7 .
Hamide Betul Gerik-Celebi, ?pek Dokurel Çetin, Hilmi Bolat, Gul Unsel-Bol
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