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2008 1
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212 results

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Page 1
PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review.
Samanta D. Samanta D. Pediatr Neurol. 2020 Apr;105:3-9. doi: 10.1016/j.pediatrneurol.2019.10.009. Epub 2019 Nov 30. Pediatr Neurol. 2020. PMID: 32057594 Review.
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizures with onset primarily before the age of three years, cognitive impairment, autistic traits, and behavioral abnormalities. .
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics.
Gecz J, Thomas PQ. Gecz J, et al. Curr Opin Genet Dev. 2020 Dec;65:169-175. doi: 10.1016/j.gde.2020.06.012. Epub 2020 Jul 26. Curr Opin Genet Dev. 2020. PMID: 32726744 Review.
PCDH19 Clustering Epilepsy (CE) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritance. ...PCDH19-CE is a disorder of cellular mosaicism. The coexistence of two different, but otherwise 'normal' cells in a PCDH19
PCDH19 Clustering Epilepsy (CE) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritan
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Smith L, Singhal N, El Achkar CM, Truglio G, Rosen Sheidley B, Sullivan J, Poduri A. Smith L, et al. Epilepsia. 2018 Mar;59(3):679-689. doi: 10.1111/epi.14003. Epub 2018 Jan 28. Epilepsia. 2018. PMID: 29377098 Free PMC article.
OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." ...Whereas the majority of individuals had ID, we highlight the possibility of average intellect in the setting of PCDH19-related …
OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy
Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.
Sadleir LG, Kolc KL, King C, Mefford HC, Dale RC, Gecz J, Scheffer IE. Sadleir LG, et al. Eur J Paediatr Neurol. 2020 Jan;24:142-147. doi: 10.1016/j.ejpn.2019.12.020. Epub 2020 Jan 3. Eur J Paediatr Neurol. 2020. PMID: 31928905
BACKGROUND: PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. ...Here we retrospectively assess the effect of levetiracetam in two independent cohorts of females with PCDH19-GCE. METHODS …
BACKGROUND: PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encepha …
Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.
Alaverdian D, Corradi AM, Sterlini B, Benfenati F, Murru L, Passafaro M, Brunetti J, Meloni I, Mari F, Renieri A, Frullanti E. Alaverdian D, et al. Epileptic Disord. 2023 Jun;25(3):371-382. doi: 10.1002/epd2.20065. Epub 2023 May 4. Epileptic Disord. 2023. PMID: 37186408
BACKGROUND: Loss of function mutations in PCDH19 gene causes an X-linked, infant-onset clustering epilepsy, associated with intellectual disability and autistic features. ...PCDH19 mosaic neurons showed elevated excitability, representing the situation in …
BACKGROUND: Loss of function mutations in PCDH19 gene causes an X-linked, infant-onset clustering epilepsy, associated with in …
The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.
Gerosa L, Mazzoleni S, Rusconi F, Longaretti A, Lewerissa E, Pelucchi S, Murru L, Giannelli SG, Broccoli V, Marcello E, Kasri NN, Battaglioli E, Passafaro M, Bassani S. Gerosa L, et al. Cell Rep. 2022 May 24;39(8):110857. doi: 10.1016/j.celrep.2022.110857. Cell Rep. 2022. PMID: 35613587 Free PMC article.
Protocadherin-19 (PCDH19) is a synaptic cell-adhesion molecule encoded by X-linked PCDH19, a gene linked with epilepsy. Here, we report a synapse-to-nucleus signaling pathway through which PCDH19 bridges neuronal activity with gene expression. In parti …
Protocadherin-19 (PCDH19) is a synaptic cell-adhesion molecule encoded by X-linked PCDH19, a gene linked with epilepsy. …
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.
Chen Y, Yang X, Chen J, Yang X, Yang Y, Liu A, Zhang X, Wu W, Sun D, Yang Z, Jiang Y, Zhang Y. Chen Y, et al. Front Neurol. 2022 Nov 3;13:1041509. doi: 10.3389/fneur.2022.1041509. eCollection 2022. Front Neurol. 2022. PMID: 36408521 Free PMC article.
OBJECTIVE: To analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity. ...Additional 20 mosaic male patients wi …
OBJECTIVE: To analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and …
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy.
Sullivan J, Gunning B, Zafar M, Guerrini R, Gecz J, Kolc KL, Zhao Y, Gasior M, Aimetti AA, Samanta D. Sullivan J, et al. Epilepsy Res. 2023 Mar;191:107112. doi: 10.1016/j.eplepsyres.2023.107112. Epub 2023 Feb 22. Epilepsy Res. 2023. PMID: 36870093 Free article. Clinical Trial.
Caused by a mutation of the PCDH19 gene on the X chromosome, this rare epilepsy syndrome primarily affects females with seizure onset commonly in the first year of life. ...Novel trial designs are likely needed to evaluate the effectiveness of antiseizure treatments …
Caused by a mutation of the PCDH19 gene on the X chromosome, this rare epilepsy syndrome primarily affects females with seizur …
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R, Fanning EA, Depienne C, Sarmady M, Abou Tayoun AN. Niazi R, et al. Hum Mutat. 2019 Mar;40(3):243-257. doi: 10.1002/humu.23701. Epub 2019 Jan 10. Hum Mutat. 2019. PMID: 30582250 Review.
The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain development. Heterozygous pathogenic variants in this gene are inherited in an unusual X-linked dominant pattern in which heterozygous fema …
The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain …
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.
Higurashi N, Takahashi Y, Kashimada A, Sugawara Y, Sakuma H, Tomonoh Y, Inoue T, Hoshina M, Satomi R, Ohfu M, Itomi K, Takano K, Kirino T, Hirose S. Higurashi N, et al. Seizure. 2015 Apr;27:1-5. doi: 10.1016/j.seizure.2015.02.006. Epub 2015 Feb 16. Seizure. 2015. PMID: 25891919 Free article. Review.
PURPOSE: The pathomechanism and treatment of PCDH19 female epilepsy (PCDH19-FE) remain unclear. Here, we report that corticosteroids are effective for control of the seizure clusters or other acute symptoms of PCDH19-FE and argue for the possible invol …
PURPOSE: The pathomechanism and treatment of PCDH19 female epilepsy (PCDH19-FE) remain unclear. Here, we report that co …
212 results