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Items: 1 to 20 of 49

1.

Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.

Zhang J, Chen J, Zeng Q, Zhang L, Tian X, Yang X, Yang Z, Wu Y, Wu X, Zhang Y.

Seizure. 2019 May 13;69:228-234. doi: 10.1016/j.seizure.2019.05.010. [Epub ahead of print]

2.

Epileptic Negative Myoclonus restricted to lower limbs in benign childhood focal epilepsy with vertex spikes (BEVS).

Gong P, Xue J, Qian P, Yang H, Liu X, Zhang Y, Jiang Y, Yang Z.

Eur J Neurol. 2019 May 11. doi: 10.1111/ene.13982. [Epub ahead of print]

PMID:
31077506
3.

Mosaicism and incomplete penetrance of PCDH19 mutations.

Liu A, Yang X, Yang X, Wu Q, Zhang J, Sun D, Yang Z, Jiang Y, Wu X, Wei L, Zhang Y.

J Med Genet. 2019 Feb;56(2):81-88. doi: 10.1136/jmedgenet-2017-105235. Epub 2018 Oct 4.

4.

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.

Chen L, Yan H, Cao B, Wu Y, Gu Q, Xiao J, Yang Y, Yang H, Shi Z, Yang Z, Pan H, Chang X, Chen J, Sun Y, Zhang Y, Wu X, Jiang Y, Wang J.

Int J Genomics. 2018 Jul 3;2018:2361068. doi: 10.1155/2018/2361068. eCollection 2018.

5.

[Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders].

Qian P, Yang X, Xu X, Liu X, Zhang Y, Yang Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):314-318. doi: 10.3760/cma.j.issn.1003-9406.2018.03.002. Chinese.

PMID:
29896722
6.

Genetic (idiopathic) epilepsy with photosensitive seizures includes features of both focal and generalized seizures.

Xue J, Gong P, Yang H, Liu X, Jiang Y, Zhang Y, Yang Z.

Sci Rep. 2018 Apr 19;8(1):6254. doi: 10.1038/s41598-018-24644-0.

7.

The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome.

Tian X, Ye J, Zeng Q, Zhang J, Yang X, Liu A, Yang Z, Liu X, Wu X, Zhang Y.

Dev Med Child Neurol. 2018 Jun;60(6):566-573. doi: 10.1111/dmcn.13727. Epub 2018 Mar 24.

8.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H, Li D, Wu Y, Zhang Q, Gu Q, Xie H, Ji T, Wang H, Zhao L, Zhao H, Yang Y, Feng H, Xiong H, Ji J, Yang Z, Kou L, Li M, Bao X, Chang X, Zhang Y, Li L, Li H, Niu Z, Wu X, Xiao J, Jiang Y, Wang J.

PLoS One. 2018 Feb 16;13(2):e0188869. doi: 10.1371/journal.pone.0188869. eCollection 2018.

9.

Scalp-recorded high-frequency oscillations in childhood epileptic encephalopathy with continuous spike-and-wave during sleep with different etiologies.

Gong P, Xue J, Qian P, Yang H, Liu X, Cai L, Bian K, Yang Z.

Brain Dev. 2018 Apr;40(4):299-310. doi: 10.1016/j.braindev.2017.12.010. Epub 2018 Jan 4.

PMID:
29307466
10.

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

Zeng Q, Yang X, Zhang J, Liu A, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y.

J Hum Genet. 2018 Jan;63(1):9-18. doi: 10.1038/s10038-017-0359-x. Epub 2017 Nov 13.

PMID:
29215089
11.

GRIN2A mutations in epilepsy-aphasia spectrum disorders.

Yang X, Qian P, Xu X, Liu X, Wu X, Zhang Y, Yang Z.

Brain Dev. 2018 Mar;40(3):205-210. doi: 10.1016/j.braindev.2017.09.007. Epub 2017 Oct 19.

PMID:
29056244
12.

Early childhood myoclonic epilepsy: An independent genetic generalized epilepsy with myoclonic seizures as the main seizure type.

Yang Z, Xue J, Li H, Qian P, Liu X, Jiang Y, Zhang Y.

Clin Neurophysiol. 2017 Sep;128(9):1656-1663. doi: 10.1016/j.clinph.2017.06.244. Epub 2017 Jul 6.

PMID:
28738275
13.

Myoclonic epilepsy in infancy with preceding or concurrent afebrile generalized tonic-clonic seizures in Chinese children.

Yang Z, Li H, Xue J, Qian P, Liu X, Zhang Y.

Brain Dev. 2017 Nov;39(10):828-835. doi: 10.1016/j.braindev.2017.06.007. Epub 2017 Jul 13.

PMID:
28712486
14.

Long-term outcomes of epilepsy surgery in tuberous sclerosis complex.

Liang S, Zhang J, Yang Z, Zhang S, Cui Z, Cui J, Zhang J, Liu N, Ding P.

J Neurol. 2017 Jun;264(6):1146-1154. doi: 10.1007/s00415-017-8507-y. Epub 2017 May 17.

PMID:
28516327
15.

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.

Cao B, Yang X, Chen Y, Huang Q, Wu Y, Gu Q, Xiao J, Yang H, Pan H, Chen J, Sun Y, Ren L, Zhao C, Deng Y, Yang Y, Chang X, Yang Z, Zhang Y, Niu Z, Wang J, Wu X, Wang J, Jiang Y.

Metab Brain Dis. 2017 Aug;32(4):1123-1131. doi: 10.1007/s11011-017-9985-4. Epub 2017 Apr 10.

PMID:
28397151
16.

Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.

Xue J, Chang X, Zhang Y, Yang Z.

Metab Brain Dis. 2017 Aug;32(4):1081-1087. doi: 10.1007/s11011-017-9995-2. Epub 2017 Mar 27.

PMID:
28349276
17.

Electro-clinical-etiological associations of epilepsia partialis continua in 57 Chinese children.

Li H, Xue J, Qian P, Zhang Y, Bao X, Liu X, Yang Z.

Brain Dev. 2017 Jun;39(6):506-514. doi: 10.1016/j.braindev.2017.01.011. Epub 2017 Feb 21.

PMID:
28238390
18.

Atonic elements combined or uncombined with epileptic spasms in infantile spasms.

Xue J, Qian P, Li H, Yang H, Liu X, Zhang Y, Yang Z.

Clin Neurophysiol. 2017 Jan;128(1):220-226. doi: 10.1016/j.clinph.2016.11.008. Epub 2016 Nov 20.

PMID:
27940146
19.

Scalp-recorded high-frequency oscillations in atypical benign partial epilepsy.

Qian P, Li H, Xue J, Yang Z.

Clin Neurophysiol. 2016 Oct;127(10):3306-13. doi: 10.1016/j.clinph.2016.07.013. Epub 2016 Aug 1.

PMID:
27579546
20.

Clinical and genetic analysis of two Chinese infants with Mabry syndrome.

Xue J, Li H, Zhang Y, Yang Z.

Brain Dev. 2016 Oct;38(9):807-18. doi: 10.1016/j.braindev.2016.04.008. Epub 2016 May 10.

PMID:
27177984

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