Research & Literature

[A patient with an early diagnosis of PCDH19-related epilepsy].

Hoshina M, Higurashi N, Abe Y, et al.

No to hattatsu = Brain and development 2015; (47(4)):305-9.

PCDH19-related epilepsy in two mosaic male patients.

Terracciano A, Trivisano M, Cusmai R, et al.

Epilepsia 2016; (57(3)):e51-5 doi:10.1111/epi.13295.

Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy.

Ikeda H, Imai K, Ikeda H, et al.

Epileptic disorders : international epilepsy journal with videotape 2016; (18(1)):26-33 doi:10.1684/epd.2016.0803.

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.

Breuillard D, Leunen D, Chemaly N, et al.

Epilepsy & behavior : E&B 2016; (60()):75-80 doi:10.1016/j.yebeh.2016.04.009.

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.

Trivisano M, Pietrafusa N, Ciommo Vd, et al.

Epilepsy research 2016; (125()):32-6.

[PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review].

Yang L, Arafat A, Peng J, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2017; (42(6)):730-736 doi:10.11817/j.issn.1672-7347.2017.06.021.

Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice.

Hayashi S, Inoue Y, Hattori S, et al.

Scientific reports 2017; (7(1)):5801 doi:10.1038/s41598-017-06374-x.

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.

Pederick DT, Richards KL, Piltz SG, et al.

Neuron 2018; (97(1)):59-66.e5 doi:10.1016/j.neuron.2017.12.005.

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.

Bassani S, Cwetsch AW, Gerosa L, et al.

Human molecular genetics 2018; (27(6)):1027-1038 doi:10.1093/hmg/ddy019.

PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

Smith L, Singhal N, El Achkar CM, et al.

Epilepsia 2018; (59(3)):679-689 doi:10.1111/epi.14003.

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

Kolc KL, Sadleir LG, Scheffer IE, et al.

Molecular psychiatry 2019; (24(2)):241-251 doi:10.1038/s41380-018-0066-9.

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.

Romasko EJ, DeChene ET, Balciuniene J, et al.

Epilepsy research 2018; (145()):89-92 doi:10.1016/j.eplepsyres.2018.06.008.

Mosaicism and incomplete penetrance of PCDH19 mutations.

Liu A, Yang X, Yang X, et al.

Journal of medical genetics 2019; (56(2)):81-88 doi:10.1136/jmedgenet-2017-105235.

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Trivisano M, Pietrafusa N, Terracciano A, et al.

Epilepsia 2018; (59(12)):2260-2271 doi:10.1111/epi.14600.

Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.

Chemaly N, Losito E, Pinard JM, et al.

Epileptic disorders : international epilepsy journal with videotape 2018; (20(6)):457-467 doi:10.1684/epd.2018.1009.

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

Niazi R, Fanning EA, Depienne C, et al.

Human mutation 2019; (40(3)):243-257 doi:10.1002/humu.23701.

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.

Vlaskamp DRM, Bassett AS, Sullivan JE, et al.

Epilepsia 2019; (60(3)):429-440 doi:10.1111/epi.14678.

Non convulsive status epilepticus in the elderly.

Dupont S

Geriatrie et psychologie neuropsychiatrie du vieillissement 2019; (17(S1)):25-30 doi:10.1684/pnv.2019.0782.

[Clinical characteristics of PCDH19-female limited epilepsy].

Chen Y, Yang XL, Liu AJ, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2019; (57(11)):857-862 doi:10.3760/cma.j.issn.0578-1310.2019.11.008.

Medical management of status epilepticus: Emergency room to intensive care unit.

Crawshaw AA, Cock HR

Seizure 2020; (75()):145-152 doi:10.1016/j.seizure.2019.10.006.

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.

Mei D, Cetica V, Marini C, Guerrini R

Epilepsia 2019; (60 Suppl 3()):S2-S7 doi:10.1111/epi.16054.

PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review.

Samanta D

Pediatric neurology 2020; (105()):3-9 doi:10.1016/j.pediatrneurol.2019.10.009.

Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy.

Gursoy S, Ataman E, Baysal BT, et al.

Annals of Indian Academy of Neurology 2020; (23(2)):206-210 doi:10.4103/aian.AIAN_465_19.

Antiseizure medication withdrawal in seizure-free patients with PCDH19-related epilepsy: A multinational cohort survey.

Aledo-Serrano Á, Del Ser T, Gil-Nagel A

Seizure 2020; (80()):259-261 doi:10.1016/j.seizure.2020.06.007.

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Kolc KL, Møller RS, Sadleir LG, et al.

Advances in experimental medicine and biology 2020; (1298()):177-187 doi:10.1007/5584_2020_574.

Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.

Rampazzo ACM, Dos Santos RRP, Maluf FA, et al.

Neurogenetics 2021; (22(2)):105-115 doi:10.1007/s10048-021-00644-7.

Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis.

Borghi R, Magliocca V, Petrini S, et al.

Journal of clinical medicine 2021; (10(13)) doi:10.3390/jcm10132754.

X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family.

Hung LY, Subramaniam SR, Tong TT, et al.

Clinica chimica acta; international journal of clinical chemistry 2021; (521()):285-288 doi:10.1016/j.cca.2021.07.023.

Effects of Vagus Nerve Stimulation on Sustained Seizure Clusters: A Case Report.

Muchamad GR, Hanaya R, Maruyama S, et al.

NMC case report journal 2021; (8(1)):123-128 doi:10.2176/nmccrj.cr.2020-0137.

The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation.

Dell'Isola GB, Vinti V, Fattorusso A, et al.

Frontiers in neurology 2021; (12()):780053 doi:10.3389/fneur.2021.780053.

Behavioral and neuropsychological profile of a male patient with mosaic PCDH19 mutation.

Johannessen M, Kjellsen IM, Malt E

Epilepsy & behavior reports 2022; (19()):100559 doi:10.1016/j.ebr.2022.100559.

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.

Dell'Isola GB, Mencaroni E, Fattorusso A, et al.

BMC medical genomics 2022; (15(1)):181 doi:10.1186/s12920-022-01313-w.

Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome.

Moncayo JA, Vargas MN, Castillo I, et al.

Cureus 2022; (14(7)):e27154 doi:10.7759/cureus.27154.

PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.

Chen Y, Yang X, Chen J, et al.

Frontiers in neurology 2022; (13()):1041509 doi:10.3389/fneur.2022.1041509.

Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy.

Sullivan J, Gunning B, Zafar M, et al.

Epilepsy research 2023; (191()):107112 doi:10.1016/j.eplepsyres.2023.107112.

Treatment of Seizure Clusters in Epilepsy: A Narrative Review on Rescue Therapies.

Becker DA, Wheless JW, Sirven J, et al.

Neurology and therapy 2023; (12(5)):1439-1455 doi:10.1007/s40120-023-00515-3.

Status Epilepticus.

Freedman DA, Roach ES

Pediatrics in review 2023; (44(7)):383-392 doi:10.1542/pir.2022-005632.

X-Linked Epilepsies: A Narrative Review.

Bernardo P, Cuccurullo C, Rubino M, et al.

International journal of molecular sciences 2024; (25(7)) doi:10.3390/ijms25074110.

Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort.

Kovacs M, Fogarasi A, Hegyi M, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(5)):685-693 doi:10.1002/epd2.20264.

Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.

Feng W, Wang Z, Wang X, et al.

Seizure 2024; (121()):95-104 doi:10.1016/j.seizure.2024.07.023.

Dravet-like syndrome with PCDH19 mutations in Taiwan - A multicenter study.

Liu YH, Liang JS, Chang MY, et al.

Pediatrics and neonatology 2025; (66(3)):230-234 doi:10.1016/j.pedneo.2024.04.011.

A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings.

Alijanpour S, Ghafouri-Fard S, Tonekaboni SH, et al.

Basic and clinical neuroscience 2024; (15(4)):541-552 doi:10.32598/bcn.2023.5507.1.

Ganaxolone: A Review in Epileptic Seizures Associated with Cyclin-Dependent Kinase-Like 5 Deficiency Disorder.

Hoy SM

Paediatric drugs 2025; (27(1)):111-118 doi:10.1007/s40272-024-00670-6.

A survey of adult caregivers of people with developmental and epileptic encephalopathies: A long-term care planning needs assessment.

Andrade DM, Bailey LD, Meskis MA, et al.

Epilepsy & behavior : E&B 2025; (172()):110677 doi:10.1016/j.yebeh.2025.110677.

Tough to treat: What we know about managing PCDH19-related epilepsy - Systematic review.

Tobiasz A, Hager M, Dębowska J, et al.

Seizure 2025; (132()):98-109 doi:10.1016/j.seizure.2025.08.030.

Seizure Clusters: Current Concepts in Definition and Treatment.

Bassani G, Pasini E, Mostacci B, et al.

Journal of clinical medicine 2026; (15(5)) doi:10.3390/jcm15051847.

Seizure Management in Adult Patients During Air Medical Transport.

Thompson BL, Lauria M, Grassley D, et al.

Air medical journal 2026; (45(3)):266-271 doi:10.1016/j.amj.2026.01.002.

2025 Korean Guidelines for Cardiopulmonary Resuscitation: Part 11. First aid.

Woo SH, Lee CH, Kim MY, et al.

Clinical and experimental emergency medicine 2026; (13(Suppl 1)):S185-S194 doi:10.15441/ceem.26.076.