BACKGROUND: Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants. CASE PRESENTATION: We report on a long term follow-up of patient with de novo missense variant of DHDDS, who revealed non progressive nature. This 18-year-old woman presented non-progressive tremor since her early infancy. She had rare seizures. Her tremor was considered as cortical myoclonic tremor with giant somatosensory evoked potentials. CONCLUSION: In patients with early onset, non-progressive tremor and rare generalized epilepsy phenotypes, DHDDS variants may be considered in the genetic differential diagnosis.
BACKGROUND: Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants. CASE PRESENTATION: We report on a long term follow-up of patient with de novo missense variant of DHDDS, who revealed non progressive nature. This 18-year-old woman presented non-progressive tremor since her early infancy. She had rare seizures. Her tremor was considered as cortical myoclonic tremor with giant somatosensory evoked potentials. CONCLUSION: In patients with early onset, non-progressive tremor and rare generalized epilepsy phenotypes, DHDDS variants may be considered in the genetic differential diagnosis.
Authors: Carolina Courage; Karen L Oliver; Eon Joo Park; Jillian M Cameron; Kariona A Grabińska; Mikko Muona; Laura Canafoglia; Antonio Gambardella; Edith Said; Zaid Afawi; Betul Baykan; Christian Brandt; Carlo di Bonaventura; Hui Bein Chew; Chiara Criscuolo; Leanne M Dibbens; Barbara Castellotti; Patrizia Riguzzi; Angelo Labate; Alessandro Filla; Anna T Giallonardo; Geza Berecki; Christopher B Jackson; Tarja Joensuu; John A Damiano; Sara Kivity; Amos Korczyn; Aarno Palotie; Pasquale Striano; Davide Uccellini; Loretta Giuliano; Eva Andermann; Ingrid E Scheffer; Roberto Michelucci; Melanie Bahlo; Silvana Franceschetti; William C Sessa; Samuel F Berkovic; Anna-Elina Lehesjoki Journal: Am J Hum Genet Date: 2021-04-01 Impact factor: 11.025
Authors: Serena Galosi; Ban H Edani; Simone Martinelli; Hana Hansikova; Erik A Eklund; Caterina Caputi; Laura Masuelli; Nicole Corsten-Janssen; Myriam Srour; Renske Oegema; Daniëlle G M Bosch; Colin A Ellis; Louise Amlie-Wolf; Andrea Accogli; Isis Atallah; Luisa Averdunk; Kristin W Barañano; Roberto Bei; Irene Bagnasco; Alfredo Brusco; Scott Demarest; Anne-Sophie Alaix; Carlo Di Bonaventura; Felix Distelmaier; Frances Elmslie; Ziv Gan-Or; Jean-Marc Good; Karen Gripp; Erik-Jan Kamsteeg; Ellen Macnamara; Carlo Marcelis; Noëlle Mercier; Joseph Peeden; Simone Pizzi; Luca Pannone; Marwan Shinawi; Camilo Toro; Nienke E Verbeek; Sunita Venkateswaran; Patricia G Wheeler; Lucie Zdrazilova; Rong Zhang; Giovanna Zorzi; Renzo Guerrini; William C Sessa; Dirk J Lefeber; Marco Tartaglia; Fadi F Hamdan; Kariona A Grabińska; Vincenzo Leuzzi Journal: Brain Date: 2022-03-29 Impact factor: 15.255
Authors: Seondeuk Kim; Man Jin Kim; Hyoshin Son; Sungeun Hwang; Mi-Kyoung Kang; Kon Chu; Sang Kun Lee; Jangsup Moon Journal: Ann Clin Transl Neurol Date: 2021-11-27 Impact factor: 4.511