Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Lotte, J; Bast, Thomas; Borusiak, Peter; Coppola, Antonietta; Cross, J. Helen; Dimova, Petia; Fogarasi, András; Graneß, Irene; Guerrini, Renzo; Hjalgrim, Helle; Keimer, R.; Korff, Christian; Kurlemann, Gerhard; Leiz, Steffen; Linder-Lucht, M; Loddenkemper, Tobias; Makowski, Christine; Mühe, C.; Nicolai, Joost; Nikanorova, Marina; Pellacani, Simona; Philip, Sunny; Ruf, Susanne; Fernández, Iván Sánchez; Schlachter, Kurt; Striano, Pasquale; Sukhudyan, Biayna; Valcheva, Deyana; Vermeulen, R. Jeroen; Weisbrod, Tanja; Wilken, Bernd; Wolf, Philipp; Kluger, Gerhard

doi:10.1016/j.seizure.2016.01.006

Cited by 66 publications

(77 citation statements)

References 17 publications

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“…Retrospective studies of antiepileptic therapies have found that clonazepam and bromide were the most effective treatments 3 months after starting treatment 11. The decrease in pharmacoresistance with increasing age is well documented, and seizure freedom can often be achieved in adolescence and adulthood 12…”

Section: Pcdh19-related Epilepsymentioning

confidence: 99%

PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females

et al. 2017

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Protocadherin 19 (PCDH19)-related epilepsy (OMIM 300088) is a distinctive clinical syndrome limited to females. We describe a 17-year-old girl who presented to a regional epilepsy clinic with a history of recurrent febrile seizures in infancy. Genetic analysis of the gene revealed a novel heterozygous mutation within a highly conserved region of the gene. Patients with mutations present with clusters of seizures associated with fever. While fever-induced seizures are common to children with and mutations, there are certain clinical features that distinguish these genetic syndromes from each other. mutation demonstrates an unusual form of transmission such that only heterozygous females develop the phenotype. De novo mutations account for most cases although the inheritance is sometimes familial patterns of inheritance. Hemizygous males are typically unaffected. Identification of the mutation provides patients and their families with an explanation for their clinical presentation, important prognostic information and an opportunity for genetic counselling.

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Section: Pcdh19-related Epilepsymentioning

confidence: 99%

PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females

et al. 2017

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“…Описываются фокальные и генерализованные, тони-ко-клонические, тонические, миоклонические, ато-нические приступы и абсансы [15,20]. Приступы ча-сто носят серийный характер, могут быть очень затяжными или иметь тенденцию к переходу в эпилеп-тический статус [14]. На ЭЭГ выявляется сочетание генерализованных и фокальных эпилептиформных нарушений [20].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…В целом количество на-учных работ, посвященных анализу и рекомендаци-ям по подбору терапии у пациенток с этой редкой генетической патологией, в настоящее время неве-лико [14]. Большинство публикаций посвящены ле-чению синдрома Драве (с мутацией в гене SCN1A).…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…В отношении применения стимуляции блу-ждающего нерва при эпилепсии с дебютом в младен-ческом возрасте в целом недостаточно доказательств (рекомендации уровня U) [23]. Напротив, у пациен-тов с мутацией PCDH19, по данным литературы, наи-более эффективны клобазам и препараты брома, а топирамат и вальпроаты могут быть недостаточно эффективны [9,14].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…(4 года) не имели эффекта; добавление окскарбазепина Из литературы известно, что данная форма эпи-лепсии имеет тенденцию к медикаментозной рези-стентности [14]. В ретроспективном многоцентровом исследовании эффективности терапии у 58 пациенток с мутацией PCDH19 в возрасте от 2 до 17 лет (средний возраст 10,6 года) [14] было выявлено, что наиболее эффективны в лечении этой формы эпилепсии клоба-зам и препараты брома: их назначение привело к уре-жению приступов на 50 % и более (в 68 и 67 % случаев соответственно) или к прекращению приступов на длительное время (не менее года) (в 50 и 43 % слу-чаев соответственно). Несмотря на фармакорезистент-ный характер эпилепсии, вызванной мутацией в гене PCDH19, в этом исследовании у 74 % пациентов был достигнут свободный от приступов период не менее 3 мес, а в половине этих случаев (47 %) приступы от-сутствовали при эффективном лечении на протяже-нии 1 года и более.…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

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Epilepsy Caused by Pcdh19 Gene Mutation: A Review of Literature and the Authors’ Observations

Мухин¹,

Пылаева²,

Долинина³

et al. 2016

Rus. ž. det. nevrol.

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Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

et al. 2023

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ImportanceUnderstanding the causes of infant mortality shapes public health, surveillance, and research investments. However, the association of single-locus (mendelian) genetic diseases with infant mortality is poorly understood.ObjectiveTo determine the association of genetic diseases with infant mortality.Design, Setting, and ParticipantsThis cohort study was conducted at a large pediatric hospital system in San Diego County (California) and included 546 infants (112 infant deaths [20.5%] and 434 infants [79.5%] with acute illness who survived; age, 0 to 1 year) who underwent diagnostic whole-genome sequencing (WGS) between January 2015 and December 2020. Data analysis was conducted between 2015 and 2022.ExposureInfants underwent WGS either premortem or postmortem with semiautomated phenotyping and diagnostic interpretation.Main Outcomes and MeasuresProportion of infant deaths associated with single-locus genetic diseases.ResultsAmong 112 infant deaths (54 girls [48.2%]; 8 [7.1%] African American or Black, 1 [0.9%] American Indian or Alaska Native, 8 [7.1%] Asian, 48 [42.9%] Hispanic, 1 [0.9%] Native Hawaiian or Pacific Islander, and 34 [30.4%] White infants) in San Diego County between 2015 and 2020, single-locus genetic diseases were the most common identifiable cause of infant mortality, with 47 genetic diseases identified in 46 infants (41%). Thirty-nine (83%) of these diseases had been previously reported to be associated with childhood mortality. Twenty-eight death certificates (62%) for 45 of the 46 infants did not mention a genetic etiology. Treatments that can improve outcomes were available for 14 (30%) of the genetic diseases. In 5 of 7 infants in whom genetic diseases were identified postmortem, death might have been avoided had rapid, diagnostic WGS been performed at time of symptom onset or regional intensive care unit admission.Conclusions and RelevanceIn this cohort study of 112 infant deaths, the association of genetic diseases with infant mortality was higher than previously recognized. Strategies to increase neonatal diagnosis of genetic diseases and immediately implement treatment may decrease infant mortality. Additional study is required to explore the generalizability of these findings and measure reduction in infant mortality.

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Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Cited by 66 publications

References 17 publications

PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females

PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females

Epilepsy Caused by Pcdh19 Gene Mutation: A Review of Literature and the Authors’ Observations

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

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