Dataset Information

Epilepsy in Tubulinopathy: Personal Series and Literature Review.

ABSTRACT: Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present study 15 patients from a personal cohort and 75 from 21 published studies carrying mutations in TUBA1A, TUBB2B and TUBB3 tubulin genes were evaluated with the aim to define a clinical and electrophysiological associated pattern. Epilepsy shows a wide range of severity without a specific pattern. Mutations in TUBA1A (60%) and TUBB2B (74%) and TUBB3 (25%) genes are associated with epilepsy. The accurate analysis of the Electroencephalogram (EEG) pattern in wakefulness and sleep in our series allows us to detect significant abnormalities of the background activity in 100% of patients. The involvement of white matter and of the inter-hemispheric connection structures typically observed in tubulinopathies is evidenced by the high percentage of asynchronisms in the organization of sleep activity recorded. In addition to asymmetries of the background activity, excess of slowing, low amplitude and Magnetic Resonance (MR) imaging confirm the presence of extensive brain malformations involving subcortical and midline structures. In conclusion, epilepsy in tubulinopathies when present has a favorable evolution over time suggesting a not particularly aggressive therapeutic approach.

SUBMITTER: Romaniello R

PROVIDER: S-EPMC6678821 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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Epilepsy in Tubulinopathy: Personal Series and Literature Review.

Romaniello Romina R Zucca Claudio C Arrigoni Filippo F Bonanni Paolo P Panzeri Elena E Bassi Maria T MT Borgatti Renato R

Cells 20190702 7

Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present study 15 patients from a personal cohort and 75 from 21 published studies carrying mutations in TUBA1A, TUBB2B and TUBB3 tubulin genes were evaluated with the aim to define a clinical ...[more]

PMID: 31269740

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Project description:BackgroundInformation and communication technology (ICT) has transformed the health care field worldwide. One of the main drivers of this change is the electronic health record (EHR). However, there are still open issues and challenges because the EHR usually reflects the partial view of a health care provider without the ability for patients to control or interact with their data. Furthermore, with the growth of mobile and ubiquitous computing, the number of records regarding personal health is increasing exponentially. This movement has been characterized as the Internet of Things (IoT), including the widespread development of wearable computing technology and assorted types of health-related sensors. This leads to the need for an integrated method of storing health-related data, defined as the personal health record (PHR), which could be used by health care providers and patients. This approach could combine EHRs with data gathered from sensors or other wearable computing devices. This unified view of patients' health could be shared with providers, who may not only use previous health-related records but also expand them with data resulting from their interactions. Another PHR advantage is that patients can interact with their health data, making decisions that may positively affect their health.ObjectiveThis work aimed to explore the recent literature related to PHRs by defining the taxonomy and identifying challenges and open questions. In addition, this study specifically sought to identify data types, standards, profiles, goals, methods, functions, and architecture with regard to PHRs.MethodsThe method to achieve these objectives consists of using the systematic literature review approach, which is guided by research questions using the population, intervention, comparison, outcome, and context (PICOC) criteria.ResultsAs a result, we reviewed more than 5000 scientific studies published in the last 10 years, selected the most significant approaches, and thoroughly surveyed the health care field related to PHRs. We developed an updated taxonomy and identified challenges, open questions, and current data types, related standards, main profiles, input strategies, goals, functions, and architectures of the PHR.ConclusionsAll of these results contribute to the achievement of a significant degree of coverage regarding the technology related to PHRs.

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Epilepsy in Tubulinopathy: Personal Series and Literature Review.

Publications

Epilepsy in Tubulinopathy: Personal Series and Literature Review.

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