| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig, Jennifer M Tarpinian, Beth A Keena, Maria G Vogiatzi, Elaine H Zackai, Kosuke Izumi, Shavonne L Massey, Ahmad N Abou Tayou. PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism. Epilepsy research. vol 145. 2019-04-05. PMID:29933145. |
as a corollary to this hypothesis, an individual with klinefelter syndrome (ks) (47,xxy) who has a heterozygous disease-causing pcdh19 variant should develop pcdh19-related epilepsy. |
2019-04-05 |
2023-08-13 |
Not clear |
| Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig, Jennifer M Tarpinian, Beth A Keena, Maria G Vogiatzi, Elaine H Zackai, Kosuke Izumi, Shavonne L Massey, Ahmad N Abou Tayou. PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism. Epilepsy research. vol 145. 2019-04-05. PMID:29933145. |
here, we report such evidence: - a male child with ks and pcdh19-related epilepsy - supporting the pcdh19 cellular interference disease hypothesis. |
2019-04-05 |
2023-08-13 |
Not clear |
| Nicole Chemaly, Emma Losito, Jean Marc Pinard, Agnès Gautier, Nathalie Villeneuve, Anne Sophie Arbues, Isabelle An, Isabelle Desguerre, Olivier Dulac, Catherine Chiron, Anna Kaminska, Rima Nabbou. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation. Epileptic disorders : international epilepsy journal with videotape. vol 20. issue 6. 2019-04-01. PMID:30530412. |
early and long-term electroclinical features of patients with epilepsy and pcdh19 mutation. |
2019-04-01 |
2023-08-13 |
Not clear |
| Nicole Chemaly, Emma Losito, Jean Marc Pinard, Agnès Gautier, Nathalie Villeneuve, Anne Sophie Arbues, Isabelle An, Isabelle Desguerre, Olivier Dulac, Catherine Chiron, Anna Kaminska, Rima Nabbou. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation. Epileptic disorders : international epilepsy journal with videotape. vol 20. issue 6. 2019-04-01. PMID:30530412. |
protocadherin 19 (pcdh19) mutations have been identified in epilepsy in females with mental retardation as well as patients with a "dravet-like" phenotype. |
2019-04-01 |
2023-08-13 |
Not clear |
| Nicole Chemaly, Emma Losito, Jean Marc Pinard, Agnès Gautier, Nathalie Villeneuve, Anne Sophie Arbues, Isabelle An, Isabelle Desguerre, Olivier Dulac, Catherine Chiron, Anna Kaminska, Rima Nabbou. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation. Epileptic disorders : international epilepsy journal with videotape. vol 20. issue 6. 2019-04-01. PMID:30530412. |
early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and pcdh19 mutations. |
2019-04-01 |
2023-08-13 |
Not clear |
| Anne Schaarschuch, Nicole Herte. Expression profile of N-cadherin and protocadherin-19 in postnatal mouse limbic structures. The Journal of comparative neurology. vol 526. issue 4. 2019-03-11. PMID:29159962. |
previous genetic studies revealed that mutations in protocadherin-19 (pcdh19) lead to an epilepsy syndrome with a variable degree of cognitive disability. |
2019-03-11 |
2023-08-13 |
mouse |
| Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Che. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report. BMC medical genetics. vol 19. issue 1. 2019-02-19. PMID:29866057. |
the link between the protocadherin-19 (pcdh19) gene and epilepsy suggests that an unusual form of x-linked inheritance affects females but is transmitted through asymptomatic males. |
2019-02-19 |
2023-08-13 |
Not clear |
| Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Che. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report. BMC medical genetics. vol 19. issue 1. 2019-02-19. PMID:29866057. |
individuals with epilepsy associated with mutations in the pcdh19 gene display generalized or focal seizures with or without fever sensitivity. |
2019-02-19 |
2023-08-13 |
Not clear |
| Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen, Zongbo Che. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report. BMC medical genetics. vol 19. issue 1. 2019-02-19. PMID:29866057. |
in the present study, we assessed mutations in the pcdh19 gene and the clinical features of a group of chinese patients with early infantile epileptic encephalopathy and aimed to provide further insight into the understanding of epilepsy and mental retardation limited to females (efmr; mim 300088). |
2019-02-19 |
2023-08-13 |
Not clear |
| Silvia Bassani, Andrzej W Cwetsch, Laura Gerosa, Giulia M Serratto, Alessandra Folci, Ignacio F Hall, Michele Mazzanti, Laura Cancedda, Maria Passafar. The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons. Human molecular genetics. vol 27. issue 6. 2019-01-25. PMID:29360992. |
the female epilepsy protein pcdh19 is a new gabaar-binding partner that regulates gabaergic transmission as well as migration and morphological maturation of hippocampal neurons. |
2019-01-25 |
2023-08-13 |
rat |
| Shuichi Hayashi, Yoko Inoue, Satoko Hattori, Mari Kaneko, Go Shioi, Tsuyoshi Miyakawa, Masatoshi Takeich. Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice. Scientific reports. vol 7. issue 1. 2019-01-23. PMID:28724954. |
mutations in the x-linked gene protocadherin-19 (pcdh19) cause female-limited epilepsy and mental retardation in humans. |
2019-01-23 |
2023-08-13 |
mouse |
| Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Clement C Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H C Wong, Ruopeng Sun, Fang Liu, Baomin L. Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain. vol 11. issue 1. 2019-01-07. PMID:30185235. |
other novel mutations detected in unclassified epilepsy patients involve the scn8a, cacna1a, gabrb3, gabra1, iqsec2, tsc1, vrk2, atp1a2, pcdh19, slc9a6 and chd2 genes. |
2019-01-07 |
2023-08-13 |
Not clear |
| Xinying Zhang, Na Chen, Aihua Ma, Xueyu Wang, Wenxiu Sun, Yuxing Ga. Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females. Medicine. vol 97. issue 51. 2019-01-07. PMID:30572518. |
case report of a novel pcdh19 frameshift mutation in a girl with epilepsy and mental retardation limited to females. |
2019-01-07 |
2023-08-13 |
Not clear |
| Li Yang, Ahmed Arafat, Jing Peng, Chen Chen, Yuping Ma, Fei Yi. [PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. vol 42. issue 6. 2018-10-18. PMID:28690234. |
[pcdh19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review]. |
2018-10-18 |
2023-08-13 |
Not clear |
| Li Yang, Ahmed Arafat, Jing Peng, Chen Chen, Yuping Ma, Fei Yi. [PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. vol 42. issue 6. 2018-10-18. PMID:28690234. |
epilepsy with mental retardation limited to females (efmr) is a syndrome characterized by early onset heat-sensitive epilepsy of infancy or early childhood and generally limited to females, which previously reported that the cadherin gene superfamily subtype protocadherin 19 (pcdh19) gene is its pathogenic gene. |
2018-10-18 |
2023-08-13 |
Not clear |
| Li Yang, Ahmed Arafat, Jing Peng, Chen Chen, Yuping Ma, Fei Yi. [PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. vol 42. issue 6. 2018-10-18. PMID:28690234. |
cognitive impairment or autism-like performance were often identified in these patients, hematuria metabolic diseases screening was normal, no abnormal mri imaging of the head, and de novo pcdh19 gene mutations were found in their epilepsy gene chip sequencing. |
2018-10-18 |
2023-08-13 |
Not clear |
| Debopam Samant. Epilepsy with PCDH19 mutation masquerading as benign partial epilepsy in infancy. Neurology India. vol 64. issue 2. 2018-10-11. PMID:26954813. |
epilepsy with pcdh19 mutation masquerading as benign partial epilepsy in infancy. |
2018-10-11 |
2023-08-13 |
Not clear |
| Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnigh. High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. Genetics in medicine : official journal of the American College of Medical Genetics. vol 20. issue 4. 2018-09-26. PMID:28837158. |
the purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.methodswe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (cdkl5, gabra1, gabrg2, grin2b, kcnq2, mecp2, pcdh19, scn1a, or scn2a). |
2018-09-26 |
2023-08-13 |
Not clear |
| Daniel T Pederick, Claire C Homan, Emily J Jaehne, Sandra G Piltz, Bryan P Haines, Bernhard T Baune, Lachlan A Jolly, James N Hughes, Jozef Gecz, Paul Q Thoma. Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice. Scientific reports. vol 6. 2018-05-30. PMID:27240640. |
heterozygous loss-of-function mutations in humans result in the childhood epilepsy disorder pcdh19 girls clustering epilepsy (pcdh19 gce) indicating that pcdh19 is required for brain development. |
2018-05-30 |
2023-08-13 |
mouse |
| Shane Lyons, Michael Marnane, Eleanor Reavey, Nicola Williams, Daniel Costell. PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females. Practical neurology. vol 17. issue 4. 2018-04-17. PMID:28455388. |
protocadherin 19 (pcdh19)-related epilepsy (omim 300088) is a distinctive clinical syndrome limited to females. |
2018-04-17 |
2023-08-13 |
Not clear |