We present a family case of neonatal-onset KCNQ2-related epilepsy due to a novel intronic mutation. Three members of an Italian family (father and offspring) presented with neonatal-onset asymmetric tonic and clonic seizures with peculiar video-electroencephalography and aEEG features referring to sequential seizures. The father and the first son underwent standard of care treatments in line with current neonatal intensive care unit protocols, with a prolonged hospitalization before reaching full seizure control with carbamazepine. After the experience acquired with her family and the latest advances in the literature, the younger daughter was directly treated with carbamazepine, obtaining rapid seizure control and short hospitalization. They all had normal development. Carbamazepine is rarely administered as a first-line option in neonatal seizures. Recent evidence suggests that neonatal intensive care unit protocols should implement a trial with sodium channel blockers such as carbamazepine as first-option anti-seizure medication and a fast access to genetic testing in neonates with sequential seizures without structural brain injury or acute causes. Moreover, we report and discuss the laboratory studies performed on a novel causative intronic mutation in KCNQ2 (c.1525+5 G>A in IVS13), since pathogenicity may be difficult to prove for intronic variants.

Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy / R. Dilena, E. Mauri, A. Di Fonzo, C. Bana, P.F. Ajmone, C. Rigamonti, T. Catenio, S. Gangi, P. Striano, M. Fumagalli. - In: FRONTIERS IN NEUROLOGY. - ISSN 1664-2295. - 13:(2022), pp. 942582.1-942582.6. [10.3389/fneur.2022.942582]

Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy

T. Catenio;M. Fumagalli
Ultimo
Writing – Review & Editing
2022

Abstract

We present a family case of neonatal-onset KCNQ2-related epilepsy due to a novel intronic mutation. Three members of an Italian family (father and offspring) presented with neonatal-onset asymmetric tonic and clonic seizures with peculiar video-electroencephalography and aEEG features referring to sequential seizures. The father and the first son underwent standard of care treatments in line with current neonatal intensive care unit protocols, with a prolonged hospitalization before reaching full seizure control with carbamazepine. After the experience acquired with her family and the latest advances in the literature, the younger daughter was directly treated with carbamazepine, obtaining rapid seizure control and short hospitalization. They all had normal development. Carbamazepine is rarely administered as a first-line option in neonatal seizures. Recent evidence suggests that neonatal intensive care unit protocols should implement a trial with sodium channel blockers such as carbamazepine as first-option anti-seizure medication and a fast access to genetic testing in neonates with sequential seizures without structural brain injury or acute causes. Moreover, we report and discuss the laboratory studies performed on a novel causative intronic mutation in KCNQ2 (c.1525+5 G>A in IVS13), since pathogenicity may be difficult to prove for intronic variants.
EEG; KCNQ2; SCN2A; carbamazepine (CBZ); developmental and epileptic encephalopathy (DEE); intronic mutation; self-limited neonatal epilepsy; sodium channel blocker
Settore MED/38 - Pediatria Generale e Specialistica
Article (author)
File in questo prodotto:
File Dimensione Formato  
FrontNeurol2022.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 1.76 MB
Formato Adobe PDF
1.76 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/940486
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? ND
social impact