Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases

Mehdi Ahmadi¹, Arne Herting², Birgitt Mueffelmann³, Friedrich G Woermann⁴, Rami Abou Jamra⁵, Christian G Bien⁶, Tilman Polster⁷, Christian Brandt⁸

Affiliations

¹ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: nima2006ahmadi@yahoo.com.
² Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: arne.herting@mara.de.
³ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: birgitt.mueffelmann@mara.de.
⁴ Society for Epilepsy Research, Maraweg 21, Bielefeld, Germany. Electronic address: friedrich.woermann@mara.de.
⁵ Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. Electronic address: Rami.AbouJamra@medizin.uni-leipzig.de.
⁶ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: christian.bien@mara.de.
⁷ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: tilman.polster@mara.de.
⁸ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: christian.brandt@mara.de.

PMID: 34922328
DOI: 10.1016/j.yebeh.2021.108479

Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases

Mehdi Ahmadi et al. Epilepsy Behav. 2022 Jan.

. 2022 Jan:126:108479.

doi: 10.1016/j.yebeh.2021.108479. Epub 2021 Dec 16.

Authors

Mehdi Ahmadi¹, Arne Herting², Birgitt Mueffelmann³, Friedrich G Woermann⁴, Rami Abou Jamra⁵, Christian G Bien⁶, Tilman Polster⁷, Christian Brandt⁸

Affiliations

¹ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: nima2006ahmadi@yahoo.com.
² Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: arne.herting@mara.de.
³ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: birgitt.mueffelmann@mara.de.
⁴ Society for Epilepsy Research, Maraweg 21, Bielefeld, Germany. Electronic address: friedrich.woermann@mara.de.
⁵ Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. Electronic address: Rami.AbouJamra@medizin.uni-leipzig.de.
⁶ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: christian.bien@mara.de.
⁷ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: tilman.polster@mara.de.
⁸ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: christian.brandt@mara.de.

PMID: 34922328
DOI: 10.1016/j.yebeh.2021.108479

Abstract

Hypochondroplasia is a skeletal dysplasia syndrome with an autosomal dominant inheritance. It may be associated with temporal lobe epilepsy. We present a series of four patients (two female, two male) with hypochondroplasia who presented at our center with drug refractory epilepsy. Clinical details and EEG and MRI findings led to a diagnosis of temporal lobe epilepsy in all four cases. The MRI findings indicate the epilepsy in hypochondroplasia may be associated with bilateral temporal lobe dysgenesis.

Keywords: Achondroplasia; FGFR3; Focal epilepsy; Temporal lobe dysgenesis.

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Conflict of interest statement

Declaration of Competing Interest AH obtained honoraria as a speaker from Desitin. CB obtained honoraria as a speaker or for consulting from Arvelle Therapeutics/ Angelini Pharma, Desitin, Eisai, GW Pharmaceuticals, UCB, Zogenix. CGB receives research support from the Deutsche Forschungsgemeinschaft (German Research Council, Bonn, Germany) and Gerd-Altenhof-Stiftung (Deutsches Stiftungs-Zentrum, Essen, Germany). TP obtained honoraria as speaker or consultant from Zogenix, Desitin and Novartis and research support from Zogenix. BM, FGW, MA, and RAJ had no conflict of interest.

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Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases

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Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases

Authors

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Abstract

Conflict of interest statement

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