Epilepsy-intellectual disability in females (English Wikipedia)

Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, et al. (December 2012). "Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy". Epilepsia. 53 (12): 2111–9. doi:10.1111/j.1528-1167.2012.03649.x. hdl:11365/1000813. ISSN 1528-1167. PMID 22946748. S2CID 8071244.
Marini C.; et al. (June 29, 2010). Infantile onset focal epilepsy and epilepetic encephalopathies associated with PCDH19 gene mutations: New de novo and familial mutations. 9th European Congress on Epileptology. Vol. 51. pp. 1–189. doi:10.1111/j.1528-1167.2010.02658.x. hdl:11446/404. PMID 20590792.

harvard.edu

ui.adsabs.harvard.edu

Sugawara, Takashi; Tsurubuchi, Yuji; Agarwala, Kishan Lal; Ito, Masatoshi; Fukuma, Goryu; Mazaki-Miyazaki, Emi; Nagafuji, Hiroshi; Noda, Masaharu; Imoto, Keiji (2001-05-22). "A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction". Proceedings of the National Academy of Sciences. 98 (11): 6384–6389. Bibcode:2001PNAS...98.6384S. doi:10.1073/pnas.111065098. ISSN 0027-8424. PMC 33477. PMID 11371648.
Guy, Jacky; Gan, Jian; Selfridge, Jim; Cobb, Stuart; Bird, Adrian (2007-02-23). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–1147. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. ISSN 0036-8075. PMC 7610836. PMID 17289941.

inserm.fr

hal.inserm.fr

Depienne, C; LeGeurn, E (2012). "PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder". Human Mutation. 33 (4): 627–634. doi:10.1002/humu.22029. PMID 22267240. S2CID 40463330.

marinuspharma.com

ir.marinuspharma.com

"Marinus Pharmaceuticals Initiates Clinical Trial With Ganaxolone in PCDH19 Female Pediatric Epilepsy (NASDAQ:MRNS)". ir.marinuspharma.com. Retrieved 2016-08-22.

nih.gov

pubmed.ncbi.nlm.nih.gov

Stevenson RE, Holden KR, Rogers RC, Schwartz CE (May 2012). "Seizures and X-linked intellectual disability". European Journal of Medical Genetics. 55 (5): 307–12. doi:10.1016/j.ejmg.2012.01.017. PMC 3531238. PMID 22377486.
Depienne, C; LeGeurn, E (2012). "PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder". Human Mutation. 33 (4): 627–634. doi:10.1002/humu.22029. PMID 22267240. S2CID 40463330.
Higurashi, N.; Nakamura, M.; Sugai, M.; Ohfu, M.; Sakauchi, M.; Sugawara, Y.; Nakamura, K.; Kato, M.; Usui, D.; Mogami, Y.; Fujiwara, Y.; Ito, T.; Ikeda, H.; Imai, K.; Takahashi, Y.; Nukui, M.; Inoue, T.; Okazaki, S.; Kirino, T.; Tomonoh, Y.; Inoue, T.; Takano, K.; Shimakawa, S.; Hirose, S. (2013). "PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy". Epilepsy Research. 106 (1–2): 191–199. doi:10.1016/j.eplepsyres.2013.04.005. PMID 23712037. S2CID 20561773.
Specchio, N; Marini, C; Terracciano, A (2011). "Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations". Epilepsia. 52 (7): 1251–1257. doi:10.1111/j.1528-1167.2011.03063.x. PMID 21480887.
Depienne, Christel; Bouteiller, Delphine; Keren, Boris; Cheuret, Emmanuel; Poirier, Karine; Trouillard, Oriane; Benyahia, Baya; Quelin, Chloé; Carpentier, Wassila (2009-02-13). "Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females". PLOS Genet. 5 (2): e1000381. doi:10.1371/journal.pgen.1000381. ISSN 1553-7404. PMC 2633044. PMID 19214208.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, et al. (January 2011). "Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females". Human Mutation. 32 (1): E1959–75. doi:10.1002/humu.21373. PMC 3033517. PMID 21053371.
Dibbens, LM; Tarpey, PS (June 2008). "X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment". Nature Genetics. 40 (6): 776–781. doi:10.1038/ng.149. PMC 2756413. PMID 18469813.
Depienne, Christel; Gourfinkel-An, Isabelle; Baulac, Stéphanie; LeGuern, Eric (2012-01-01). Noebels, Jeffrey L.; Avoli, Massimo; Rogawski, Michael A.; Olsen, Richard W.; Delgado-Escueta, Antonio V. (eds.). Genes in infantile epileptic encephalopathies (4th ed.). Bethesda (MD): National Center for Biotechnology Information (US). PMID 22787626.
Scheffer, Ingrid; et al. (2008). "Epilepsy and mental retardation limited to females: an under-recognized disorder". Brain. 131 (4): 918–927. doi:10.1093/brain/awm338. PMID 18234694.
Cappelletti, Simona; Specchio, Nicola; Moavero, Romina; Terracciano, Alessandra; Trivisano, Marina; Pontrelli, Giuseppe; Gentile, Simonetta; Vigevano, Federico; Cusmai, Raffaella (2015). "Cognitive development in females with PCDH19 gene-related epilepsy". Epilepsy & Behavior. 42: 36–40. doi:10.1016/j.yebeh.2014.10.019. PMID 25499160. S2CID 13227576.
Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R (August 2010). "Protocadherin 19 mutations in girls with infantile-onset epilepsy". Neurology. 75 (7): 646–53. doi:10.1212/WNL.0b013e3181ed9e67. PMID 20713952. S2CID 40368257.
Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, et al. (December 2012). "Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy". Epilepsia. 53 (12): 2111–9. doi:10.1111/j.1528-1167.2012.03649.x. hdl:11365/1000813. ISSN 1528-1167. PMID 22946748. S2CID 8071244.
Marini C.; et al. (June 29, 2010). Infantile onset focal epilepsy and epilepetic encephalopathies associated with PCDH19 gene mutations: New de novo and familial mutations. 9th European Congress on Epileptology. Vol. 51. pp. 1–189. doi:10.1111/j.1528-1167.2010.02658.x. hdl:11446/404. PMID 20590792.
Dibbens, L. M.; Kneen, R.; Bayly, M. A.; Heron, S. E.; Arsov, T.; Damiano, J. A.; Desai, T.; Gibbs, J.; McKenzie, F. (2011-04-26). "Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations". Neurology. 76 (17): 1514–1519. doi:10.1212/WNL.0b013e318217e7b6. ISSN 0028-3878. PMID 21519002. S2CID 25105085.
Miller, Ian O.; Sotero de Menezes, Marcio A. (1993-01-01). "SCN1A Seizure Disorders". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). SCN1A-Related Seizure Disorders. Seattle (WA): University of Washington, Seattle. PMID 20301494.
Sugawara, Takashi; Tsurubuchi, Yuji; Agarwala, Kishan Lal; Ito, Masatoshi; Fukuma, Goryu; Mazaki-Miyazaki, Emi; Nagafuji, Hiroshi; Noda, Masaharu; Imoto, Keiji (2001-05-22). "A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction". Proceedings of the National Academy of Sciences. 98 (11): 6384–6389. Bibcode:2001PNAS...98.6384S. doi:10.1073/pnas.111065098. ISSN 0027-8424. PMC 33477. PMID 11371648.
Nicola Specchio; Lucia Fusco; Federico Vigevano (November 2011). "Acute-onset epilepsy triggered by fever mimicking FIRES febrile infection–related epilepsy syndrome: The role of protocadherin 19 (PCDH19) gene mutation". Epilepsia. 52 (11): e172–e175. doi:10.1111/j.1528-1167.2011.03193.x. PMID 21777234. S2CID 35858941.
Aledo-Serrano, Ángel; Ser, Teodoro del; Gil-Nagel, Antonio (2020-06-05). "Antiseizure medication withdrawal in seizure-free patients with PCDH19-related epilepsy: a multinational cohort survey". Seizure: European Journal of Epilepsy. 80: 259–261. doi:10.1016/j.seizure.2020.06.007. ISSN 1059-1311. PMID 32682289. S2CID 219559784.
Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A (2021). "The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation". Frontiers in Neurology. 12: 780053. doi:10.3389/fneur.2021.780053. PMC 8801579. PMID 35111125.
Tan, Chuan; Shard, Chloe; Ranieri, Enzo; Hynes, Kim; Pham, Duyen H.; Leach, Damian; Buchanan, Grant; Corbett, Mark; Shoubridge, Cheryl (2015-09-15). "Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency". Human Molecular Genetics. 24 (18): 5250–5259. doi:10.1093/hmg/ddv245. ISSN 0964-6906. PMID 26123493.
Terracciano, Alessandra; Trivisano, Marina; Cusmai, Raffaella; De Palma, Luca; Fusco, Lucia; Compagnucci, Claudia; Bertini, Enrico; Vigevano, Federico; Specchio, Nicola (2016-03-01). "PCDH19-related epilepsy in two mosaic male patients". Epilepsia. 57 (3): e51–e55. doi:10.1111/epi.13295. ISSN 1528-1167. PMID 26765483.
Thiffault, Isabelle; Farrow, Emily; Smith, Laurie; Lowry, Jennifer; Zellmer, Lee; Black, Benjamin; Abdelmoity, Ahmed; Miller, Neil; Soden, Sarah (2016-06-01). "PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant". American Journal of Medical Genetics Part A. 170 (6): 1585–1589. doi:10.1002/ajmg.a.37617. ISSN 1552-4833. PMID 27016041. S2CID 36753614.
Guy, Jacky; Gan, Jian; Selfridge, Jim; Cobb, Stuart; Bird, Adrian (2007-02-23). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–1147. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. ISSN 0036-8075. PMC 7610836. PMID 17289941.

ncbi.nlm.nih.gov

Stevenson RE, Holden KR, Rogers RC, Schwartz CE (May 2012). "Seizures and X-linked intellectual disability". European Journal of Medical Genetics. 55 (5): 307–12. doi:10.1016/j.ejmg.2012.01.017. PMC 3531238. PMID 22377486.
Depienne, Christel; Bouteiller, Delphine; Keren, Boris; Cheuret, Emmanuel; Poirier, Karine; Trouillard, Oriane; Benyahia, Baya; Quelin, Chloé; Carpentier, Wassila (2009-02-13). "Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females". PLOS Genet. 5 (2): e1000381. doi:10.1371/journal.pgen.1000381. ISSN 1553-7404. PMC 2633044. PMID 19214208.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, et al. (January 2011). "Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females". Human Mutation. 32 (1): E1959–75. doi:10.1002/humu.21373. PMC 3033517. PMID 21053371.
Dibbens, LM; Tarpey, PS (June 2008). "X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment". Nature Genetics. 40 (6): 776–781. doi:10.1038/ng.149. PMC 2756413. PMID 18469813.
Depienne, Christel; Gourfinkel-An, Isabelle; Baulac, Stéphanie; LeGuern, Eric (2012-01-01). Noebels, Jeffrey L.; Avoli, Massimo; Rogawski, Michael A.; Olsen, Richard W.; Delgado-Escueta, Antonio V. (eds.). Genes in infantile epileptic encephalopathies (4th ed.). Bethesda (MD): National Center for Biotechnology Information (US). PMID 22787626.
Miller, Ian O.; Sotero de Menezes, Marcio A. (1993-01-01). "SCN1A Seizure Disorders". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). SCN1A-Related Seizure Disorders. Seattle (WA): University of Washington, Seattle. PMID 20301494.
Sugawara, Takashi; Tsurubuchi, Yuji; Agarwala, Kishan Lal; Ito, Masatoshi; Fukuma, Goryu; Mazaki-Miyazaki, Emi; Nagafuji, Hiroshi; Noda, Masaharu; Imoto, Keiji (2001-05-22). "A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction". Proceedings of the National Academy of Sciences. 98 (11): 6384–6389. Bibcode:2001PNAS...98.6384S. doi:10.1073/pnas.111065098. ISSN 0027-8424. PMC 33477. PMID 11371648.
Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A (2021). "The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation". Frontiers in Neurology. 12: 780053. doi:10.3389/fneur.2021.780053. PMC 8801579. PMID 35111125.
Guy, Jacky; Gan, Jian; Selfridge, Jim; Cobb, Stuart; Bird, Adrian (2007-02-23). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–1147. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. ISSN 0036-8075. PMC 7610836. PMID 17289941.

rarediseases.info.nih.gov

"PCDH19-related female-limited epilepsy | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2016-08-22.

ghr.nlm.nih.gov

"PCDH19 Gene". Genetic Home Reference. Archived from the original on July 5, 2013. Retrieved December 30, 2011.

ninds.nih.gov

"The Epilepsies and Seizures: Hope Through Research". www.ninds.nih.gov. Archived from the original on 2016-07-27. Retrieved 2016-08-22.

ogic.ca

Carol Perez-Iratxeta; Peer Bork; Miguel A. Andrade. "Genes2Diseases database". Archived from the original on 2013-12-02. Retrieved 2013-11-22.

omim.org

"Entry – #300088 – Developmental and Epileptic Encephalopathy 9; DEE9 – OMIM". omim.org.

pcdh19info.org

"PCDH19 Alliance". Retrieved August 22, 2016.
"Research - PCDH19 Alliance". PCDH19 Alliance. Retrieved 2016-08-22.

pcdh19research.org

"Insieme per la Ricerca PCDH19 – ONLUS". www.pcdh19research.org. Archived from the original on 2016-07-26. Retrieved 2016-08-22.

scholarsportal.info

resolver.scholarsportal.info

Higurashi, N.; Nakamura, M.; Sugai, M.; Ohfu, M.; Sakauchi, M.; Sugawara, Y.; Nakamura, K.; Kato, M.; Usui, D.; Mogami, Y.; Fujiwara, Y.; Ito, T.; Ikeda, H.; Imai, K.; Takahashi, Y.; Nukui, M.; Inoue, T.; Okazaki, S.; Kirino, T.; Tomonoh, Y.; Inoue, T.; Takano, K.; Shimakawa, S.; Hirose, S. (2013). "PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy". Epilepsy Research. 106 (1–2): 191–199. doi:10.1016/j.eplepsyres.2013.04.005. PMID 23712037. S2CID 20561773.

seizure-journal.com

Aledo-Serrano, Ángel; Ser, Teodoro del; Gil-Nagel, Antonio (2020-06-05). "Antiseizure medication withdrawal in seizure-free patients with PCDH19-related epilepsy: a multinational cohort survey". Seizure: European Journal of Epilepsy. 80: 259–261. doi:10.1016/j.seizure.2020.06.007. ISSN 1059-1311. PMID 32682289. S2CID 219559784.

semanticscholar.org

api.semanticscholar.org

Depienne, C; LeGeurn, E (2012). "PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder". Human Mutation. 33 (4): 627–634. doi:10.1002/humu.22029. PMID 22267240. S2CID 40463330.
Higurashi, N.; Nakamura, M.; Sugai, M.; Ohfu, M.; Sakauchi, M.; Sugawara, Y.; Nakamura, K.; Kato, M.; Usui, D.; Mogami, Y.; Fujiwara, Y.; Ito, T.; Ikeda, H.; Imai, K.; Takahashi, Y.; Nukui, M.; Inoue, T.; Okazaki, S.; Kirino, T.; Tomonoh, Y.; Inoue, T.; Takano, K.; Shimakawa, S.; Hirose, S. (2013). "PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy". Epilepsy Research. 106 (1–2): 191–199. doi:10.1016/j.eplepsyres.2013.04.005. PMID 23712037. S2CID 20561773.
Cappelletti, Simona; Specchio, Nicola; Moavero, Romina; Terracciano, Alessandra; Trivisano, Marina; Pontrelli, Giuseppe; Gentile, Simonetta; Vigevano, Federico; Cusmai, Raffaella (2015). "Cognitive development in females with PCDH19 gene-related epilepsy". Epilepsy & Behavior. 42: 36–40. doi:10.1016/j.yebeh.2014.10.019. PMID 25499160. S2CID 13227576.
Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R (August 2010). "Protocadherin 19 mutations in girls with infantile-onset epilepsy". Neurology. 75 (7): 646–53. doi:10.1212/WNL.0b013e3181ed9e67. PMID 20713952. S2CID 40368257.
Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, et al. (December 2012). "Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy". Epilepsia. 53 (12): 2111–9. doi:10.1111/j.1528-1167.2012.03649.x. hdl:11365/1000813. ISSN 1528-1167. PMID 22946748. S2CID 8071244.
Dibbens, L. M.; Kneen, R.; Bayly, M. A.; Heron, S. E.; Arsov, T.; Damiano, J. A.; Desai, T.; Gibbs, J.; McKenzie, F. (2011-04-26). "Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations". Neurology. 76 (17): 1514–1519. doi:10.1212/WNL.0b013e318217e7b6. ISSN 0028-3878. PMID 21519002. S2CID 25105085.
Nicola Specchio; Lucia Fusco; Federico Vigevano (November 2011). "Acute-onset epilepsy triggered by fever mimicking FIRES febrile infection–related epilepsy syndrome: The role of protocadherin 19 (PCDH19) gene mutation". Epilepsia. 52 (11): e172–e175. doi:10.1111/j.1528-1167.2011.03193.x. PMID 21777234. S2CID 35858941.
Aledo-Serrano, Ángel; Ser, Teodoro del; Gil-Nagel, Antonio (2020-06-05). "Antiseizure medication withdrawal in seizure-free patients with PCDH19-related epilepsy: a multinational cohort survey". Seizure: European Journal of Epilepsy. 80: 259–261. doi:10.1016/j.seizure.2020.06.007. ISSN 1059-1311. PMID 32682289. S2CID 219559784.
Thiffault, Isabelle; Farrow, Emily; Smith, Laurie; Lowry, Jennifer; Zellmer, Lee; Black, Benjamin; Abdelmoity, Ahmed; Miller, Neil; Soden, Sarah (2016-06-01). "PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant". American Journal of Medical Genetics Part A. 170 (6): 1585–1589. doi:10.1002/ajmg.a.37617. ISSN 1552-4833. PMID 27016041. S2CID 36753614.

thecutesyndrome.com

"PCDH19 and SCN8A Research Funded By The Cute Syndrome". The Cute Syndrome Foundation: Funding PCDH19 Epilepsy &
SCN8A Epilepsy Research. Retrieved 2016-08-22.
"News about PCDH19 Epilepsy and SCN8A Epilepsy and The Cute Syndrome Foundation". The Cute Syndrome Foundation: Funding PCDH19 Epilepsy &
SCN8A Epilepsy Research. Retrieved 2016-08-22.

web.archive.org

Carol Perez-Iratxeta; Peer Bork; Miguel A. Andrade. "Genes2Diseases database". Archived from the original on 2013-12-02. Retrieved 2013-11-22.
"PCDH19 Gene". Genetic Home Reference. Archived from the original on July 5, 2013. Retrieved December 30, 2011.
"The Epilepsies and Seizures: Hope Through Research". www.ninds.nih.gov. Archived from the original on 2016-07-27. Retrieved 2016-08-22.
"Insieme per la Ricerca PCDH19 – ONLUS". www.pcdh19research.org. Archived from the original on 2016-07-26. Retrieved 2016-08-22.

worldcat.org

Depienne, Christel; Bouteiller, Delphine; Keren, Boris; Cheuret, Emmanuel; Poirier, Karine; Trouillard, Oriane; Benyahia, Baya; Quelin, Chloé; Carpentier, Wassila (2009-02-13). "Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females". PLOS Genet. 5 (2): e1000381. doi:10.1371/journal.pgen.1000381. ISSN 1553-7404. PMC 2633044. PMID 19214208.
Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, et al. (December 2012). "Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy". Epilepsia. 53 (12): 2111–9. doi:10.1111/j.1528-1167.2012.03649.x. hdl:11365/1000813. ISSN 1528-1167. PMID 22946748. S2CID 8071244.
Specchio, N (2011-08-01). "Stormy Onset Epilepsy in Girls with De Novo Protocadherin 19 Mutations". Epilepsia. 52: 4–22. doi:10.1111/j.1528-1167.2011.03206.x. ISSN 1528-1167.
Dibbens, L. M.; Kneen, R.; Bayly, M. A.; Heron, S. E.; Arsov, T.; Damiano, J. A.; Desai, T.; Gibbs, J.; McKenzie, F. (2011-04-26). "Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations". Neurology. 76 (17): 1514–1519. doi:10.1212/WNL.0b013e318217e7b6. ISSN 0028-3878. PMID 21519002. S2CID 25105085.
Sugawara, Takashi; Tsurubuchi, Yuji; Agarwala, Kishan Lal; Ito, Masatoshi; Fukuma, Goryu; Mazaki-Miyazaki, Emi; Nagafuji, Hiroshi; Noda, Masaharu; Imoto, Keiji (2001-05-22). "A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction". Proceedings of the National Academy of Sciences. 98 (11): 6384–6389. Bibcode:2001PNAS...98.6384S. doi:10.1073/pnas.111065098. ISSN 0027-8424. PMC 33477. PMID 11371648.
Aledo-Serrano, Ángel; Ser, Teodoro del; Gil-Nagel, Antonio (2020-06-05). "Antiseizure medication withdrawal in seizure-free patients with PCDH19-related epilepsy: a multinational cohort survey". Seizure: European Journal of Epilepsy. 80: 259–261. doi:10.1016/j.seizure.2020.06.007. ISSN 1059-1311. PMID 32682289. S2CID 219559784.
Tan, Chuan; Shard, Chloe; Ranieri, Enzo; Hynes, Kim; Pham, Duyen H.; Leach, Damian; Buchanan, Grant; Corbett, Mark; Shoubridge, Cheryl (2015-09-15). "Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency". Human Molecular Genetics. 24 (18): 5250–5259. doi:10.1093/hmg/ddv245. ISSN 0964-6906. PMID 26123493.
Terracciano, Alessandra; Trivisano, Marina; Cusmai, Raffaella; De Palma, Luca; Fusco, Lucia; Compagnucci, Claudia; Bertini, Enrico; Vigevano, Federico; Specchio, Nicola (2016-03-01). "PCDH19-related epilepsy in two mosaic male patients". Epilepsia. 57 (3): e51–e55. doi:10.1111/epi.13295. ISSN 1528-1167. PMID 26765483.
Thiffault, Isabelle; Farrow, Emily; Smith, Laurie; Lowry, Jennifer; Zellmer, Lee; Black, Benjamin; Abdelmoity, Ahmed; Miller, Neil; Soden, Sarah (2016-06-01). "PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant". American Journal of Medical Genetics Part A. 170 (6): 1585–1589. doi:10.1002/ajmg.a.37617. ISSN 1552-4833. PMID 27016041. S2CID 36753614.
Guy, Jacky; Gan, Jian; Selfridge, Jim; Cobb, Stuart; Bird, Adrian (2007-02-23). "Reversal of Neurological Defects in a Mouse Model of Rett Syndrome". Science. 315 (5815): 1143–1147. Bibcode:2007Sci...315.1143G. doi:10.1126/science.1138389. ISSN 0036-8075. PMC 7610836. PMID 17289941.