Open AccessCase series of early SCN1A-related developmental and epileptic encephalopathies
Author(s) -
Vykuntaraju K Gowda,
Raghavendraswami Amoghimath,
Manojna Battina,
Sanjay K Shivappa,
Naveen Benakappa
Publication year - 2021
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_99_20
Subject(s) - hypsarrhythmia , medicine , pediatrics , vigabatrin , clobazam , epilepsy , epileptic spasms , valproic acid , intellectual disability , levetiracetam , neuroimaging , differential diagnosis , electroencephalography , psychiatry , anticonvulsant , pathology
The developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of rare neurodevelopmental disorders, characterized by early onset seizures that are often intractable, electroencephalographic abnormalities, developmental delay, or regression. The SCN1A pathogenic variants can present as DEE. They are characterized by early infantile seizure onset, profound intellectual disability, and a severe hyperkinetic movement disorder. Studies are lacking, hence we are reporting a case series of early SCN1A -related DEE. The objective of the study was to report clinical and molecular aspects of early SCN1A -related DEE.