The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study

Wei, Zihan; Liu, Chao; Wu, Zhenyu; Cao, Mi; Qiao, Xiaomu; Han, Tenghui; Zhang, Ying; Liu, Yonghong; Deng, Yanchun

doi:10.1016/j.seizure.2021.05.019

Cited by 3 publications

(2 citation statements)

References 37 publications

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“…Her seizure was well controlled with carbamazepine. These findings indicated that Chr 12q22-q23.3 had a broad phenotypic spectrum, similar to most well-known epileptogenic genes[ 31 ]. The symptoms of patients from the same family showed high similarity, which might be related to the common mutation sites and genetic backgrounds.…”

Section: Etl2 Related To the 12q22-q233 Locusmentioning

confidence: 84%

Molecular typing of familial temporal lobe epilepsy

Liu¹,

Qiao²,

Wei³

et al. 2022

WJP

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The pathogenesis of temporal lobe epilepsy (TLE) was originally considered to be acquired. However, some reports showed that TLE was clustered in some families, indicating a genetic etiology. With the popularity of genetic testing technology, eleven different types of familial TLE (FTLE), including ETL1-ETL11, have been reported, of which ETL9-ETL11 had not yet been included in the OMIM database. These types of FTLE were caused by different genes/Loci and had distinct characteristics. ETL1, ETL7 and ETL10 were characterized by auditory, visual and aphasia seizures, leading to the diagnosis of familial lateral TLE. ETL2, ETL3 and ETL6 showed prominent autonomic symptom and automatism with or without hippocampal abnormalities, indicating a mesial temporal origin. Febrile seizures were common in FTLEs such as ETL2, ETL5, ETL6 and ETL11. ETL4 was diagnosed as occipitotemporal lobe epilepsy with a high incidence of migraine and visual aura. Considering the diversity and complexity of the symptoms of TLE, neurologists enquiring about the family history of epilepsy should ask whether the relatives of the proband had experienced unnoticeable seizures and whether there is a family history of other neurological diseases carefully. Most FTLE patients had a good prognosis with or without anti-seizure medication treatment, with the exception of patients with heterozygous mutations of the CPA6 gene. The pathogenic mechanism was diverse among these genes and spans disturbances of neuron development, differentiation and synaptic signaling. In this article, we describe the research progress on eleven different types of FTLE. The precise molecular typing of FTLE would facilitate the diagnosis and treatment of FTLE and genetic counseling for this disorder.

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Section: Etl2 Related To the 12q22-q233 Locusmentioning

confidence: 84%

Molecular typing of familial temporal lobe epilepsy

Liu¹,

Qiao²,

Wei³

et al. 2022

WJP

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“…Another homozygous mutation was observed in one individual for a missense mutation in Calcium Voltage-Gated Channel Subunit Alpha1 H (CACNA1H) with three additional individuals also carrying one copy of this mutation. Mutations in this gene have been associated with generalized and severe epilepsies [ 33 , 34 ], although it has been debated whether this is a bona fide monogenic epilepsy gene [ 35 ]. This female individual was diagnosed with epilepsy at 15 years of age and does not have any other family members with a diagnosis of epilepsy, or any consanguinity noted.…”

Section: Resultsmentioning

confidence: 99%

Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci

Anazi

Ammar

Al-Hajj³

et al. 2022

Hum Genomics

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Background Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian epilepsy cohorts. This offers a unique opportunity for the discovery of rare genetic variants impacting this disease as there is a high rate of consanguinity among large tribal pedigrees. Results We performed WES on 144 individuals diagnosed with epilepsy, to interrogate known epilepsy-related genes for known and functional novel variants. We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. We identified 32 potentially causative pathogenic variants across 30 different genes in 44/144 (30%) of these Saudi epilepsy individuals. We also identified 232 variants of unknown significance (VUS) across 101 different genes in 133/144 (92%) subjects. Strong enrichment of variants of likely pathogenicity was observed in previously described epilepsy-associated loci, and a number of putative pathogenic variants in novel loci are also observed. Conclusion Several putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.

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T-Type Calcium Channels in Epilepsy

Sack

Snutch

2022

Voltage-Gated Calcium Channels

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The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study

Cited by 3 publications

References 37 publications

Molecular typing of familial temporal lobe epilepsy

Molecular typing of familial temporal lobe epilepsy

Whole‐exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci

T-Type Calcium Channels in Epilepsy

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