Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome
Eur J Paediatr Neurol. 2024 Feb 20:S1090-3798(24)00014-X. doi: 10.1016/j.ejpn.2024.02.007. Online ahead of print.NO ABSTRACTPMID:38429149 | DOI:10.1016/j.ejpn.2024.02.007 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 1, 2024 Category: Neurology Authors: Piero Pavone Raffaele Falsaperla Source Type: research

On the way to early diagnosis
Eur J Paediatr Neurol. 2024 Feb 22:S1090-3798(24)00019-9. doi: 10.1016/j.ejpn.2024.02.012. Online ahead of print.NO ABSTRACTPMID:38403569 | DOI:10.1016/j.ejpn.2024.02.012 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 25, 2024 Category: Neurology Authors: Martin Magner Source Type: research

On the way to early diagnosis
Eur J Paediatr Neurol. 2024 Feb 22:S1090-3798(24)00019-9. doi: 10.1016/j.ejpn.2024.02.012. Online ahead of print.NO ABSTRACTPMID:38403569 | DOI:10.1016/j.ejpn.2024.02.012 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 25, 2024 Category: Neurology Authors: Martin Magner Source Type: research

On the way to early diagnosis
Eur J Paediatr Neurol. 2024 Feb 22:S1090-3798(24)00019-9. doi: 10.1016/j.ejpn.2024.02.012. Online ahead of print.NO ABSTRACTPMID:38403569 | DOI:10.1016/j.ejpn.2024.02.012 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 25, 2024 Category: Neurology Authors: Martin Magner Source Type: research

On the way to early diagnosis
Eur J Paediatr Neurol. 2024 Feb 22:S1090-3798(24)00019-9. doi: 10.1016/j.ejpn.2024.02.012. Online ahead of print.NO ABSTRACTPMID:38403569 | DOI:10.1016/j.ejpn.2024.02.012 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 25, 2024 Category: Neurology Authors: Martin Magner Source Type: research

On the way to early diagnosis
Eur J Paediatr Neurol. 2024 Feb 22:S1090-3798(24)00019-9. doi: 10.1016/j.ejpn.2024.02.012. Online ahead of print.NO ABSTRACTPMID:38403569 | DOI:10.1016/j.ejpn.2024.02.012 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 25, 2024 Category: Neurology Authors: Martin Magner Source Type: research

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency
CONCLUSIONS: Epilepsy is one of the main symptoms in GAMT deficiency with various seizure types and non-specific EEG findings. Early diagnosis and initiation of treatment are crucial for better seizure and cognitive outcomes. This long-term follow up study highlights to include cerebral creatine deficiency syndromes in the differential diagnosis of patients with global developmental delay and epilepsy and describes the course under treatment.PMID:38394710 | DOI:10.1016/j.ejpn.2024.02.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 23, 2024 Category: Neurology Authors: Y ılmaz Yıldız Didem Ard ıçlı Rah şan Göçmen Dilek Yaln ızoğlu Meral Top çu Turgay Co şkun Ay şegül Tokatlı G öknur Haliloğlu Source Type: research

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency
CONCLUSIONS: Epilepsy is one of the main symptoms in GAMT deficiency with various seizure types and non-specific EEG findings. Early diagnosis and initiation of treatment are crucial for better seizure and cognitive outcomes. This long-term follow up study highlights to include cerebral creatine deficiency syndromes in the differential diagnosis of patients with global developmental delay and epilepsy and describes the course under treatment.PMID:38394710 | DOI:10.1016/j.ejpn.2024.02.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 23, 2024 Category: Neurology Authors: Y ılmaz Yıldız Didem Ard ıçlı Rah şan Göçmen Dilek Yaln ızoğlu Meral Top çu Turgay Co şkun Ay şegül Tokatlı G öknur Haliloğlu Source Type: research

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency
CONCLUSIONS: Epilepsy is one of the main symptoms in GAMT deficiency with various seizure types and non-specific EEG findings. Early diagnosis and initiation of treatment are crucial for better seizure and cognitive outcomes. This long-term follow up study highlights to include cerebral creatine deficiency syndromes in the differential diagnosis of patients with global developmental delay and epilepsy and describes the course under treatment.PMID:38394710 | DOI:10.1016/j.ejpn.2024.02.006 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 23, 2024 Category: Neurology Authors: Y ılmaz Yıldız Didem Ard ıçlı Rah şan Göçmen Dilek Yaln ızoğlu Meral Top çu Turgay Co şkun Ay şegül Tokatlı G öknur Haliloğlu Source Type: research

Language outcomes in children who underwent surgery for the removal of a posterior fossa tumor: A systematic review
CONCLUSION: Children who had posterior fossa surgery seem to be at risk for postoperative language impairment. These results stress the need for language follow-up in posterior fossa tumor survivors.PMID:38377646 | DOI:10.1016/j.ejpn.2023.12.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Cheyenne Svaldi Effy Ntemou Roel Jonkers Saskia Kohnen V ânia de Aguiar Source Type: research

Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.PMID:38377647 | DOI:10.1016/j.ejpn.2024.02.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Emilie Everard Hilde Laeremans Fran çois Boemer Sandrine Marie Marie-Fran çoise Vincent Joseph P Dewulf Fran çois-Guillaume Debray Corinne De Laet Marie-C écile Nassogne Source Type: research

Language outcomes in children who underwent surgery for the removal of a posterior fossa tumor: A systematic review
CONCLUSION: Children who had posterior fossa surgery seem to be at risk for postoperative language impairment. These results stress the need for language follow-up in posterior fossa tumor survivors.PMID:38377646 | DOI:10.1016/j.ejpn.2023.12.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Cheyenne Svaldi Effy Ntemou Roel Jonkers Saskia Kohnen V ânia de Aguiar Source Type: research

Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.PMID:38377647 | DOI:10.1016/j.ejpn.2024.02.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Emilie Everard Hilde Laeremans Fran çois Boemer Sandrine Marie Marie-Fran çoise Vincent Joseph P Dewulf Fran çois-Guillaume Debray Corinne De Laet Marie-C écile Nassogne Source Type: research

Language outcomes in children who underwent surgery for the removal of a posterior fossa tumor: A systematic review
CONCLUSION: Children who had posterior fossa surgery seem to be at risk for postoperative language impairment. These results stress the need for language follow-up in posterior fossa tumor survivors.PMID:38377646 | DOI:10.1016/j.ejpn.2023.12.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Cheyenne Svaldi Effy Ntemou Roel Jonkers Saskia Kohnen V ânia de Aguiar Source Type: research

Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.PMID:38377647 | DOI:10.1016/j.ejpn.2024.02.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - February 20, 2024 Category: Neurology Authors: Emilie Everard Hilde Laeremans Fran çois Boemer Sandrine Marie Marie-Fran çoise Vincent Joseph P Dewulf Fran çois-Guillaume Debray Corinne De Laet Marie-C écile Nassogne Source Type: research