| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene
|
Zanotta, Nicoletta
|
|
|
116 |
C |
p. 151-155
|
artikel
|
| 2 |
A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation
|
Vasquez, Alejandra
|
|
|
116 |
C |
p. 156-158
|
artikel
|
| 3 |
A rare syndrome: Microcephaly, diabetes mellitus, and epilepsy due to homozygous TRMT10A mutation
|
Uçan Tokuç, Firdevs Ezgi
|
|
|
116 |
C |
p. 162-163
|
artikel
|
| 4 |
Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage
|
Zou, Dong-Fang
|
|
|
116 |
C |
p. 37-44
|
artikel
|
| 5 |
ATP6V1A variants are associated with childhood epilepsy with favorable outcome
|
Li, Bin
|
|
|
116 |
C |
p. 81-86
|
artikel
|
| 6 |
Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy
|
Zhang, Yun-Jian
|
|
|
116 |
C |
p. 159-161
|
artikel
|
| 7 |
Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review
|
Paprocka, Justyna
|
|
|
116 |
C |
p. 14-23
|
artikel
|
| 8 |
Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy
|
Lin, Zhi-Jian
|
|
|
116 |
C |
p. 24-29
|
artikel
|
| 9 |
Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review
|
Zhang, Hongwei
|
|
|
116 |
C |
p. 100-106
|
artikel
|
| 10 |
Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene
|
Çapan, Özlem Yalçın
|
|
|
116 |
C |
p. 126-132
|
artikel
|
| 11 |
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders
|
Wu, Wu-Chen
|
|
|
116 |
C |
p. 119-125
|
artikel
|
| 12 |
Editorial Board
|
|
|
|
116 |
C |
p. ii
|
artikel
|
| 13 |
Epilepsy-associated genes: an update
|
Zhang, Meng-Wen
|
|
|
116 |
C |
p. 4-13
|
artikel
|
| 14 |
Epilepsy-associated genes: discovery, clinical significance, and underlying principles of genetic medicine
|
Liao, Wei-Ping
|
|
|
116 |
C |
p. 1-3
|
artikel
|
| 15 |
Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes
|
Çapan, Özlem Yalçın
|
|
|
116 |
C |
p. 51-64
|
artikel
|
| 16 |
Investigation of FRMPD4 variants associated with X-linked epilepsy
|
Li, Ren-Ke
|
|
|
116 |
C |
p. 45-50
|
artikel
|
| 17 |
Levetiracetam induces severe psychiatric symptoms in people with epilepsy
|
Tao, Kaiyan
|
|
|
116 |
C |
p. 147-150
|
artikel
|
| 18 |
MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability
|
Yang, Jie-Hua
|
|
|
116 |
C |
p. 30-36
|
artikel
|
| 19 |
NEXMIF variants are associated with epilepsy with or without intellectual disability
|
Ye, Zi-Long
|
|
|
116 |
C |
p. 93-99
|
artikel
|
| 20 |
Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders
|
Jin, Liang
|
|
|
116 |
C |
p. 87-92
|
artikel
|
| 21 |
SCAF4 variants are associated with epilepsy with neurodevelopmental disorders
|
Hu, Yuanyuan
|
|
|
116 |
C |
p. 113-118
|
artikel
|
| 22 |
SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders
|
Lin, Heng
|
|
|
116 |
C |
p. 65-73
|
artikel
|
| 23 |
The net impact of clinical seizures on outcome characteristics in infants with neonatal encephalopathies at 12 months of age
|
Tekgul, Hasan
|
|
|
116 |
C |
p. 133-139
|
artikel
|
| 24 |
UGT1A polymorphism rs4148324 associated with topiramate plasma concentration to dose ratio in children with epilepsy
|
Wei, Shifeng
|
|
|
116 |
C |
p. 107-112
|
artikel
|
| 25 |
Variation in access to specialist services for neurosurgical procedures in adults with epilepsy in England, a cohort study
|
Murphy, Joanna
|
|
|
116 |
C |
p. 140-146
|
artikel
|
| 26 |
Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy
|
Ilyas, Muhammad
|
|
|
116 |
C |
p. 74-80
|
artikel
|
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