Protocadherin 19 mutations in girls with infantile-onset epilepsy

Marini, Carla; Mei, Davide; Parmeggiani, Lucio; Norci, V.; Calado, Eulália; Ferrari, Anna Rita; Moreira, Ana; Pisano, Tiziana; Specchio, Nicola; Vigevano, Federico; Battaglia, Domenica; Guerrini, Renzo

doi:10.1212/wnl.0b013e3181ed9e67

Cited by 127 publications

(128 citation statements)

References 17 publications

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“…In humans, mutations in Pcdh19 have been implicated in an X chromosome-linked epilepsy and mental retardation limited to females (EFMR), as well as in Dravet-like syndrome (69,73,201) (TABLE 4). It has been speculated that the male is unaffected by compensation with nonparalogous PCDH11Y, whereas the female is affected as a result of the "cellular interference" by mosaicism via X-chromosome inactivation (73).…”

Section: Protocadherin 19mentioning

confidence: 99%

Cadherins in Brain Morphogenesis and Wiring

Hirano

Takeichi

2012

Physiological Reviews

274

312

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LHirano S, Takeichi M. Cadherins in Brain Morphogenesis and Wiring. Physiol Rev 92: 597-634, 2012; doi:10.1152/physrev.00014.2011 -dependent cell-cell adhesion molecules that play critical roles in animal morphogenesis. Various cadherin-related molecules have also been identified, which show diverse functions, not only for the regulation of cell adhesion but also for that of cell proliferation and planar cell polarity. During the past decade, understanding of the roles of these molecules in the nervous system has significantly progressed. They are important not only for the development of the nervous system but also for its functions and, in turn, for neural disorders. In this review, we discuss the roles of cadherins and related molecules in neural development and function in the vertebrate brain.

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Section: Protocadherin 19mentioning

confidence: 99%

Cadherins in Brain Morphogenesis and Wiring

Hirano

Takeichi

2012

Physiological Reviews

274

312

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“…(2011) скрининг мутации в большой когорте женщин с различными фенотипами эпилепсии и началом заболевания в мла-денческом возрасте выявил мутацию гена PCDH19 у 13 пробандов (7 -с фенотипом синдрома Драве, 6 -с фокальной эпилепсией) [15].…”

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

“…Семиология эпилептических приступов разнообразна. 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].…”

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

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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“…PCDH19 mutations have been associated with epilepsy and mental retardation [84], an X-linked disorder affecting only girls and sparing transmitting boys, but also often appearing de novo (Table 1) [85]. It is characterized by a variable clinical presentation, including delayed development from birth, normal early development followed by regression starting after seizure onset, and normal development without regression [86].…”

Section: Pcdh19mentioning

confidence: 99%

Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

2014

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Research in genetics of epilepsy represents an area of great interest both for clinical purposes and for understanding the basic mechanisms of epilepsy. Most mutations in epilepsies without structural brain abnormalities have been identified in ion channel genes, but an increasing number of genes involved in a diversity of functional and developmental processes are being recognized through whole exome or genome sequencing. Targeted molecular diagnosis is now available for different forms of epilepsy. The identification of epileptogenic mutations in patients before epilepsy onset and the possibility of developing therapeutic strategies tested in experimental models may facilitate experimental approaches that prevent epilepsy or decrease its severity. Functional analysis is essential for better understanding pathogenic mechanisms and gene interactions. In vitro experimental systems are either cells that usually do not express the protein of interest or neurons in primary cultures. In vivo/ex vivo systems are organisms or preparations obtained from them (e.g., brain slices), which should better model the complexity of brain circuits and actual pathophysiological conditions. Neurons differentiated from induced pluripotent stem cells generated from the skin fibroblasts of patients have recently allowed the study of mutations in human neurons having the genetic background of a given patient. However, there is remarkable complexity underlying epileptogenesis in the clinical dimension, as reflected by the fact that experimental models have not provided yet results having clinical translation and that, with a few exceptions concerning rare conditions, no new curative treatment has emerged from any genetic finding in epilepsy.

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Protocadherin 19 mutations in girls with infantile-onset epilepsy

Cited by 127 publications

References 17 publications

Cadherins in Brain Morphogenesis and Wiring

Cadherins in Brain Morphogenesis and Wiring

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

Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

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