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  1. Article ; Online: Somatic mosaicism in focal epilepsies.

    Gooley, Samuel / Perucca, Piero / Tubb, Caitlin / Hildebrand, Michael S / Berkovic, Samuel F

    Current opinion in neurology

    2024  Volume 37, Issue 2, Page(s) 105–114

    Abstract: Purpose of review: Over the past decade, it has become clear that brain somatic mosaicism is an important contributor to many focal epilepsies. The number of cases and the range of underlying pathologies with somatic mosaicism are rapidly increasing. ... ...

    Abstract Purpose of review: Over the past decade, it has become clear that brain somatic mosaicism is an important contributor to many focal epilepsies. The number of cases and the range of underlying pathologies with somatic mosaicism are rapidly increasing. This growth in somatic variant discovery is revealing dysfunction in distinct molecular pathways in different focal epilepsies.
    Recent findings: We briefly summarize the current diagnostic yield of pathogenic somatic variants across all types of focal epilepsy where somatic mosaicism has been implicated and outline the specific molecular pathways affected by these variants. We will highlight the recent findings that have increased diagnostic yields such as the discovery of pathogenic somatic variants in novel genes, and new techniques that allow the discovery of somatic variants at much lower variant allele fractions.
    Summary: A major focus will be on the emerging evidence that somatic mosaicism may contribute to some of the more common focal epilepsies such as temporal lobe epilepsy with hippocampal sclerosis, which could lead to it being re-conceptualized as a genetic disorder.
    MeSH term(s) Humans ; Mosaicism ; Epilepsies, Partial/genetics ; Brain ; Epilepsy, Temporal Lobe ; Mutation
    Language English
    Publishing date 2024-01-18
    Publishing country England
    Document type Review ; Journal Article
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000001244
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  2. Article: Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

    Chen, Siwei / Neale, Benjamin M / Berkovic, Samuel F

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date to investigate rare variants that confer risk for a spectrum of epilepsy ... ...

    Abstract Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date to investigate rare variants that confer risk for a spectrum of epilepsy syndromes. With an unprecedented sample size of >54,000 human exomes, composed of 20,979 deep-phenotyped patients with epilepsy and 33,444 controls, we replicate previous gene findings at exome-wide significance; using a hypothesis-free approach, we identify potential novel associations. Most discoveries are specific to a particular subtype of epilepsy, highlighting distinct genetic contributions to different epilepsies. Combining evidence from rare single nucleotide/short indel-, copy number-, and common variants, we find convergence of different genetic risk factors at the level of individual genes. Further comparing to other exome-sequencing studies, we implicate shared rare variant risk between epilepsy and other neurodevelopmental disorders. Our study also demonstrates the value of collaborative sequencing and deep-phenotyping efforts, which will continue to unravel the complex genetic architecture underlying the heterogeneity of epilepsy.
    Language English
    Publishing date 2023-02-24
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.02.22.23286310
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  3. Article ; Online: History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world.

    Berkovic, Samuel F / Striano, Pasquale / Tsuji, Shoji

    Epilepsia

    2023  Volume 64 Suppl 1, Page(s) S3–S8

    Abstract: Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around the world. Here, we trace the history of this syndrome. ... ...

    Abstract Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around the world. Here, we trace the history of this syndrome. Initially, it was likely conflated with other familial myoclonus epilepsies, especially the progressive myoclonus epilepsies. As the progressive myoclonus epilepsies became better understood clinically and genetically, this group began to stand out and was first recognized as such in Japan. Subsequently, families were recognized around the world and there was debate as to whether they represented one or multiple disorders. Clarification came with the identification of pentanucleotide repeats in Japanese families, and FAME/BAFME was quickly shown to be due to pentanucleotide expansions in at least six genes. These have geographic predilections and appear to have been caused by historically ancient initial mutations. Within and between families, there is some variation in the phenotype, explained in large part by expansion size, but whether there are features specific to individual genes remains uncertain.
    MeSH term(s) Humans ; Epilepsies, Myoclonic/genetics ; Phenotype ; Mutation/genetics ; Myoclonic Epilepsies, Progressive/genetics ; Japan ; Pedigree ; Myoclonus
    Language English
    Publishing date 2023-02-10
    Publishing country United States
    Document type Journal Article
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17519
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  4. Article ; Online: UNC13B and focal epilepsy.

    Green, Timothy E / Scheffer, Ingrid E / Berkovic, Samuel F / Hildebrand, Michael S

    Brain : a journal of neurology

    2022  Volume 145, Issue 3, Page(s) e10–e12

    MeSH term(s) Epilepsies, Partial ; Humans ; Nerve Tissue Proteins
    Chemical Substances Nerve Tissue Proteins ; UNC13B protein, human
    Language English
    Publishing date 2022-04-05
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awab485
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  5. Article: The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed.

    Van Der Veen, Sterre / Tijssen, Marina A J / Berkovic, Samuel F

    Neurology. Clinical practice

    2023  Volume 13, Issue 5, Page(s) e200187

    Abstract: Myoclonus is often approached in different ways by epileptologists and movement disorder specialists, leading to confusion in the literature. Multiplicity and inconsistency over the past 2 centuries resulted in a lack of precision and ambiguity of the ... ...

    Abstract Myoclonus is often approached in different ways by epileptologists and movement disorder specialists, leading to confusion in the literature. Multiplicity and inconsistency over the past 2 centuries resulted in a lack of precision and ambiguity of the terminology. We show that this is a current problem in which one phenomenon has been described with many terms and vice versa. Of more importance, we discuss the conceptualization of myoclonus from perspectives of both fields and focus on the borderland that exists, especially in the spectrum of cortical and epileptic myoclonus. By giving 2 examples, we illustrate the conundrum: the spectrum of progressive myoclonus epilepsies and progressive myoclonic ataxias and "cortical tremor" observed in familial cortical myoclonic tremor with epilepsy or familial adult myoclonic epilepsy. We attempt to facilitate to bridge these subspecialties and form the base for a uniform understanding to take this issue forward toward future classifications, discussions, and scientific research.
    Language English
    Publishing date 2023-08-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2645818-4
    ISSN 2163-0933 ; 2163-0402
    ISSN (online) 2163-0933
    ISSN 2163-0402
    DOI 10.1212/CPJ.0000000000200187
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  6. Article ; Online: Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing.

    Ye, Zimeng / Scheffer, Ingrid E / Berkovic, Samuel F / Hildebrand, Michael S

    Annals of neurology

    2021  Volume 90, Issue 4, Page(s) 693–694

    MeSH term(s) Genetic Testing ; Humans ; Liquid Biopsy
    Language English
    Publishing date 2021-08-18
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26191
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  7. Article ; Online: ILAE Genetic Literacy Series: familial focal epilepsy syndromes.

    Gooley, Samuel / Crompton, Douglas E / Berkovic, Samuel F

    Epileptic disorders : international epilepsy journal with videotape

    2021  Volume 24, Issue 2, Page(s) 221–228

    Abstract: There are a number of familial focal epilepsy syndromes, each with distinct clinical characteristics. Here, we review the epilepsy phenotypes and the genetic architecture of these syndromes. Using an illustrative clinical case, we describe the important ... ...

    Abstract There are a number of familial focal epilepsy syndromes, each with distinct clinical characteristics. Here, we review the epilepsy phenotypes and the genetic architecture of these syndromes. Using an illustrative clinical case, we describe the important steps in making a diagnosis and ordering appropriate genetic tests. Our discussion on the genetics of the familial focal epilepsies will provide a framework for interpreting the results of genetic testing, and allow us to apply this information to patient management.
    MeSH term(s) Epilepsies, Partial/diagnosis ; Epilepsies, Partial/genetics ; Epilepsy/genetics ; Epileptic Syndromes ; Humans ; Literacy ; Phenotype
    Language English
    Publishing date 2021-11-26
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 2086797-9
    ISSN 1950-6945 ; 1294-9361
    ISSN (online) 1950-6945
    ISSN 1294-9361
    DOI 10.1684/epd.2021.1393
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  8. Article ; Online: Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma.

    Green, Timothy E / Fujita, Atsushi / Ghaderi, Navid / Heinzen, Erin L / Matsumoto, Naomichi / Klein, Karl Martin / Berkovic, Samuel F / Hildebrand, Michael S

    Neurobiology of disease

    2023  Volume 185, Page(s) 106261

    Abstract: Hypothalamic hamartoma (HH) is a rare benign developmental brain lesion commonly associated with a well characterized epilepsy phenotype. Most individuals with HH are non-syndromic without additional developmental anomalies nor a family history of ... ...

    Abstract Hypothalamic hamartoma (HH) is a rare benign developmental brain lesion commonly associated with a well characterized epilepsy phenotype. Most individuals with HH are non-syndromic without additional developmental anomalies nor a family history of disease. Nonetheless, HH is a feature of Pallister-Hall (PHS) and Oro-Facial-Digital Type VI (OFD VI) syndromes, both characterized by additional developmental anomalies. Initial genetic of analysis HH began with syndromic HH, where germline inherited or de novo variants in GLI3, encoding a central transcription factor in the sonic hedgehog (Shh) signalling pathway, were identified in most individuals with PHS. Following these discoveries in syndromic HH, the hypothesis that post-zygotic mosaicism in related genes may underly non-syndromic HH was tested. We discuss the identified mosaic variants within individuals with non-syndromic HH, review the analytical methodologies and diagnostic yields, and explore understanding of the functional role of the implicated genes with respect to Shh signalling, and cilia development and function. We also outline future challenges in studying non-syndromic HH and suggest potential novel strategies to interrogate brain mosaicism in HH.
    MeSH term(s) Hedgehog Proteins/genetics ; Mosaicism ; Cilia/metabolism ; Brain/metabolism
    Chemical Substances Hedgehog Proteins
    Language English
    Publishing date 2023-08-12
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 1211786-9
    ISSN 1095-953X ; 0969-9961
    ISSN (online) 1095-953X
    ISSN 0969-9961
    DOI 10.1016/j.nbd.2023.106261
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  9. Article ; Online: State transitions through inhibitory interneurons in a cortical network model.

    Bryson, Alexander / Berkovic, Samuel F / Petrou, Steven / Grayden, David B

    PLoS computational biology

    2021  Volume 17, Issue 10, Page(s) e1009521

    Abstract: Inhibitory interneurons shape the spiking characteristics and computational properties of cortical networks. Interneuron subtypes can precisely regulate cortical function but the roles of interneuron subtypes for promoting different regimes of cortical ... ...

    Abstract Inhibitory interneurons shape the spiking characteristics and computational properties of cortical networks. Interneuron subtypes can precisely regulate cortical function but the roles of interneuron subtypes for promoting different regimes of cortical activity remains unclear. Therefore, we investigated the impact of fast spiking and non-fast spiking interneuron subtypes on cortical activity using a network model with connectivity and synaptic properties constrained by experimental data. We found that network properties were more sensitive to modulation of the fast spiking population, with reductions of fast spiking excitability generating strong spike correlations and network oscillations. Paradoxically, reduced fast spiking excitability produced a reduction of global excitation-inhibition balance and features of an inhibition stabilised network, in which firing rates were driven by the activity of excitatory neurons within the network. Further analysis revealed that the synaptic interactions and biophysical features associated with fast spiking interneurons, in particular their rapid intrinsic response properties and short synaptic latency, enabled this state transition by enhancing gain within the excitatory population. Therefore, fast spiking interneurons may be uniquely positioned to control the strength of recurrent excitatory connectivity and the transition to an inhibition stabilised regime. Overall, our results suggest that interneuron subtypes can exert selective control over excitatory gain allowing for differential modulation of global network state.
    MeSH term(s) Action Potentials/physiology ; Animals ; Computational Biology ; Interneurons/cytology ; Interneurons/physiology ; Mice ; Models, Neurological ; Nerve Net/cytology ; Nerve Net/physiology ; Somatosensory Cortex/cytology ; Somatosensory Cortex/physiology
    Language English
    Publishing date 2021-10-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2193340-6
    ISSN 1553-7358 ; 1553-734X
    ISSN (online) 1553-7358
    ISSN 1553-734X
    DOI 10.1371/journal.pcbi.1009521
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  10. Article ; Online: Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.

    Green, Timothy E / Schimmel, Mareike / Schubert, Susanna / Lemke, Johannes R / Bennett, Mark F / Hildebrand, Michael S / Berkovic, Samuel F

    European journal of human genetics : EJHG

    2022  Volume 30, Issue 3, Page(s) 384–388

    Abstract: Pallister-Hall syndrome, typically caused by germline or de novo variants within the GLI3 gene, has key features of hypothalamic hamartoma and polydactyly. Recently, a few similar cases have been described with bi-allelic SMO variants. We describe two ... ...

    Abstract Pallister-Hall syndrome, typically caused by germline or de novo variants within the GLI3 gene, has key features of hypothalamic hamartoma and polydactyly. Recently, a few similar cases have been described with bi-allelic SMO variants. We describe two siblings born to non-consanguineous unaffected parents presenting with hypothalamic hamartoma, post-axial polydactyly, microcephaly amongst other developmental anomalies. Previous clinical diagnostic exome analysis had excluded a pathogenic variant in GLI3. We performed exome sequencing re-analysis and identified bi-allelic SMO variants including a missense and synonymous variant in both affected siblings. We functionally characterised this synonymous variant showing it induces exon 8 skipping within the SMO transcript. Our results confirm bi-allelic SMO variants as an uncommon cause of Pallister-Hall syndrome and describe a novel exon-skipping mechanism, expanding the molecular architecture of this new clinico-molecular disorder.
    MeSH term(s) Hamartoma/genetics ; Humans ; Hypothalamic Diseases/diagnosis ; Hypothalamic Diseases/genetics ; Pallister-Hall Syndrome/diagnosis ; Pallister-Hall Syndrome/genetics ; Polydactyly/genetics ; Smoothened Receptor
    Chemical Substances SMO protein, human ; Smoothened Receptor
    Language English
    Publishing date 2022-01-16
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-021-01023-4
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