De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis

Authors: Hong-Jun Yan, Wen-Hui Liu, Min-Xing Xu, Peng-Yu Wang, Yu-Jie Gu, Hua Li, Jing Guo, Sheng Luo

Source: Frontiers in Genetics, Vol 16 (2025)

Subject Terms: KCNK4, epilepsy with febrile seizures plus, phenotypic spectrum, spatiotemporal expression, phenotypic variation, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2025.1499716/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/270f00fbfc404cc48a5b4fc2c44dedd8

GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics

Authors: Xinxiao Li, Shengnan Guo, Yangyang Sun, Jiangwei Ding, Chao Chen, Yuehui Wu, Peidong Li, Tao Sun, Xinjun Wang

Source: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-21 (2024)

Subject Terms: Epilepsy, Genetic epilepsy with febrile seizures plus, Seizures, GABRG2 gene, Mutations, Antiepileptic treatment, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1479-5876

Access URL: https://doaj.org/article/ada87dcb2f184d279f487a3ca01b4607

Corrigendum: ATP6V0C is associated with febrile seizures and epilepsy with febrile seizures plus

Authors: Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang

Source: Frontiers in Molecular Neuroscience, Vol 17 (2024)

Subject Terms: ATP6V0C, loss of function, febrile seizures, epilepsy with febrile seizures plus, whole-exome sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1385915/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/a2847d81b9cc4118b9152c7100cc4f31

An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus

Authors: Ling Li, Lamei Yuan, Wen Zheng, Yan Yang, Xiong Deng, Zhi Song, Hao Deng

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: genetic epilepsy with febrile seizures plus, SCN1A, whole exome sequencing, missense variant, genetic diagnoses, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1229569/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/58f9c611df824b119ab927e848fe690a

ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus

Authors: Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang

Source: Frontiers in Molecular Neuroscience, Vol 15 (2022)

Subject Terms: ATP6V0C, loss of function, febrile seizures, epilepsy with febrile seizures plus, whole-exome sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.889534/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/11a1b44fa0a344beb0a81664897b1c58

Biallelic SCN1A variants with divergent epilepsy phenotypes

Authors: Pentz, Rowan ^a, Hough, Rebecca ^{a, b}, Li, Chumei ^b, Tarnopolsky, Mark ^c, Jones, Kevin ^a, RamachandranNair, Rajesh ^a, Whitney, Robyn ^{a, ⁎}

Source: In Seizure: European Journal of Epilepsy April 2025 127:88-93

Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases

Authors: Chunhong Chen, Fang Fang, Xu Wang, Junlan Lv, Xiaohui Wang, Hong Jin

Source: Frontiers in Molecular Neuroscience, Vol 15 (2022)

Subject Terms: epilepsy, sodium channel, SCN1A, genetic, generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy of infancy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.821012/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/74cb536fbd694f04a98b276c72c66063

Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy

Authors: Chuang, Shu-Hui, Reddy, Doodipala Samba ^*

Source: In The Journal of Pharmacology and Experimental Therapeutics February 2018 364(2):180-197

H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus

Authors: Jian Ding, Qin‐Fei Miao, Jing‐Wen Zhang, Yu‐Xiong Guo, Yu‐Xin Zhang, Qiong‐Xiang Zhai, Zhi‐Hong Chen

Source: Brain and Behavior, Vol 10, Iss 12, Pp n/a-n/a (2020)

Subject Terms: Chinese pedigree, genetic epilepsy with febrile seizures plus (GEFS+), patch‐clamp technique, potassium voltage‐gated channel subfamily A regulatory beta subunit 3 (KCNAB3), whole‐exome sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2162-3279

Access URL: https://doaj.org/article/32dc8ef5151e48438e399dd6a0d9f7af

Genetic epilepsy with febrile seizures plus (GEFS+)

Authors: A. A. Sharkov

Source: Эпилепсия и пароксизмальные состояния, Vol 12, Iss 1S (2020)

Subject Terms: genetic epilepsy with febrile seizures plus, gefs+, scn1b, scn1a, gabrg2, gabrd, scn9a, stx1b, hcn1, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.epilepsia.su/jour/article/view/549; https://doaj.org/toc/2077-8333; https://doaj.org/toc/2311-4088

Access URL: https://doaj.org/article/9d356ce0c46e4ba0b0f319b3b36ea294

Noninactivating Voltage-Gated Sodium Channels in Severe Myoclonic Epilepsy of Infancy

Authors: Rhodes, Thomas H., Lossin, Christoph, Vanoye, Carlos G., Wang, Dao W., George,, Alfred L., Latorre, Ramon

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 Jul . 101(30), 11147-11152.

Access URL: https://www.jstor.org/stable/3372867

Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness

Authors: Ryosuke Hanaya, Fajar H Niantiarno, Yumi Kashida, Hiroshi Hosoyama, Shinsuke Maruyama, Sei Sugata, Toshiaki Otsubo, Kazumi Tanaka, Atsushi Ishii, Shinichi Hirose, Kazunori Arita

Source: Epilepsy and Behavior Case Reports, Vol 7, Iss C, Pp 16-19 (2017)

Subject Terms: Generalized epilepsy with febrile seizures plus (GEFS+), Generalized tonic-clonic seizures, Focal seizures with impaired consciousness, Vagus nerve stimulation (VNS), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213323216300743; https://doaj.org/toc/2213-3232

Access URL: https://doaj.org/article/75b2386bde3b4e21a596bfd6fb3ab041

Huperzine A provides robust and sustained protection against induced seizures in Scn1a mutant mice

Authors: Jennifer C. Wong, Stacey B.B. Dutton, Stephen D. Collins, Steven Schachter, Andrew Escayg

Source: Frontiers in Pharmacology, Vol 7 (2016)

Subject Terms: seizure, SCN1A, huperzine A, DRAVET syndrome, Genetic epilepsy with febrile seizures plus, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fphar.2016.00357/full; https://doaj.org/toc/1663-9812

Access URL: https://doaj.org/article/8dbab93a4d6e445d89b4c2d47b760edb

Sodium channels of SCNIA gene mutations in generalized epilepsy with febrile seizure plus (GEFS+) spectrum related to autism

Authors: Elisabeth Herini, Yudha Patria, Gunadi Gunadi, Surini Yusoff, Indra SAri Kusuma Harahap, Sunartini Sunartini, Sutaryo Sutaryo, Satoshi Takada, Hisahide Nishio

Source: Paediatrica Indonesiana, Vol 50, Iss 3, Pp 125-32 (2010)

Subject Terms: mutation, SCNIA, generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, autistic spectrum disorder, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/502; https://doaj.org/toc/0030-9311; https://doaj.org/toc/2338-476X

Access URL: https://doaj.org/article/b2cf4d2d389441a49019dc562cbc3008

Generalized epilepsy with febrile seizures plus: Clinical and genetic analysis of three Serbian families

Authors: Ristić Aleksandar J., Janković Slavko, Annesi Grazzia, Carrideo Sara, Annesi Ferdinanda, Gambardella Antonio, Maksimović Goran, Gnjatović Brankica, Petrović Igor, Vojvodić Nikola, Sokić Dragoslav

Source: Srpski Arhiv za Celokupno Lekarstvo, Vol 133, Iss 1-2, Pp 7-13 (2005)

Subject Terms: genetics, inherited epilepsy, generalized epilepsy with febrile seizures plus (GEFS+), Serbian population, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/0370-8179

Access URL: https://doaj.org/article/46993dbb205c46b5a03199c88b172a9c

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