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Genetic syndromes associated with frontal lobe epilepsy

Genetische Syndrome in Zusammenhang mit Frontallappenepilepsie

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Abstract

Sleep-related hypermotor epilepsy (SHE), previously called “nocturnal frontal lobe epilepsy,” is characterized by the occurrence of brief seizures with stereotyped motor patterns that are frequently hypermotor in nature and predominantly occur during sleep. Generally, SHE may follow autosomal dominant inheritance due to pathogenic variants in the genes CHRNA4, CHRNB2, CHRNA2, and KCNT1. It can also occur as part of the spectrum of familial focal epilepsy with variable foci, which is an epilepsy syndrome with autosomal dominant inheritance due to pathogenic variants in the genes DEPDC5, NPRL2, and NPRL3. A recessive mode of inheritance in SHE with pathogenic variants in PRIMA1 has been described as well. However, the phenotypic features in SHE are not specific for a genetic etiology and can be observed in patients with other or unknown etiology.

Zusammenfassung

Die schlafabhängige hypermotorische Epilepsie (SHE), früher nächtliche Frontallappenepilepsie, ist charakterisiert durch das Auftreten von kurzen stereotypen motorischen Anfällen vornehmlich während des Schlafs, die häufig eine hypermotorische Semiologie aufweisen. Die autosomal-dominante Form der SHE wird durch pathogene Varianten in den Genen CHRNA4, CHRNB2, CHRNA2 und KCNT1 hervorgerufen. Zudem kann die SHE als Teil des Spektrums der familiären fokalen Epilepsie mit variablen Foci auftreten, einem autosomal-dominant vererbten Epilepsiesyndrom, das durch pathogene Varianten in den Genen DEPDC5, NPRL2 und NPRL3 hervorgerufen wird. Außerdem wurde ein rezessiver Vererbungsmodus mit pathogenen Varianten in PRIMA1 beschrieben. Die phänotypischen Eigenschaften der SHE sind jedoch nicht spezifisch für eine genetische Ätiologie, sondern können auch bei Patienten mit anderer oder unbekannter Ätiologie auftreten.

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Authors and Affiliations

  1. Department of Clinical Neurosciences, Cumming School of Medicine, Foothills Medical Centre, University of Calgary, 1403 29 Street NW, T2N 2T9, Calgary, Alberta, Canada

    Cassie Fehr MD, BSc & Karl Martin Klein MD, PhD

  2. Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

    Karl Martin Klein MD, PhD

  3. Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

    Karl Martin Klein MD, PhD

  4. Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

    Karl Martin Klein MD, PhD

  5. Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada

    Karl Martin Klein MD, PhD

  6. Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany

    Karl Martin Klein MD, PhD

  7. Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt, Germany

    Karl Martin Klein MD, PhD

Authors
  1. Cassie Fehr MD, BSc
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Correspondence to Karl Martin Klein MD, PhD.

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Conflict of interest

C. Fehr declares that he has no competing interests. K. M. Klein reports personal fees from UCB Pharma, Novartis Pharma AG, Eisai, and GW Pharmaceuticals, grants from the federal state Hessen, Germany, through the LOEWE program and from the Canadian Institutes of Health Research.

For this article no studies with human participants or animals were performed by any of the authors. All studies performed were in accordance with the ethical standards indicated in each case.

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Fehr, C., Klein, K.M. Genetic syndromes associated with frontal lobe epilepsy. Z. Epileptol. 35, 32–35 (2022). https://doi.org/10.1007/s10309-021-00455-8

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