Skip to main content
. 2025 Apr 2;14(7):2431. doi: 10.3390/jcm14072431
a-CGH array comparative genomic hybridization
ASD autism spectrum disorder
MRI magnetic resonance imaging
MDT multi-disciplinary team
EEG electroencephalogram
ADOS Autism Diagnostic Observation Schedule
ADI-R Autism Diagnostic Interview-Revised (ADI-R)
DSM 5TR Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision
MSEL Mullen Scales of Early Learning (MSEL)
CDI MacArthur–Bates Communicative Developmental Inventory
WHO World Health Organization
CDC Centers for Disease Control and Prevention (CDC)
mTOR mammalian target of rapamycin
MECP2 methyl-CpG-binding protein 2
CNS central nervous system (CNS)
GI gastrointestinal tract
SITBS self-injurious thoughts and behaviors
C-SSRS Columbia-Suicide Severity Rating Scale
ADHD attention-deficit/hyperactivity disorder
IDD intellectual developmental disorder
IQ intelligence quotient
PI3K phosphoinositide 3-kinases
NRXN neurexins
NLGN neuroligin
OCD obsessive-compulsive disorder
FXS Fragile X syndrome
DS Down syndrome
NF1 neurofibromatosis type I
TSC tuberous sclerosis complex
CPK creatine phosphokinase
ED emergency department
SIB self-injurious behavior
NaSSA noradrenergic and specific serotonergic antidepressants
SSRIs selective serotonin reuptake inhibitors
ILAE International League Against Epilepsy (ILAE)
GGE genetic generalized epilepsy
FE focal epilepsy (FE)
FMTLE mesial temporal lobe epilepsy
ADLTE autosomal dominant lateral temporal epilepsy
ADNFLE autosomal dominant nocturnal frontal lobe epilepsy
HS hippocampal sclerosis
FS febrile seizures
LGI1 leucine-rich glioma-inactivated 1 (LGI1)
nAChR neuronal nicotinic acetylcholine receptor
LMICs middle-income countries
HIV human immunodeficiency virus
BBB Blood–brain barrier
GABA gamma-aminobutyric acid, γ-aminobutyric acid
NMDA-R N-methyl-D-aspartate receptor
AMPA α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid
mGLuR5 metabotropic glutamate receptor 5 (mGluR5),
GAD65 glutamic acid decarboxylase 65 (GAD65),
ANNA-1 antineuronal nuclear antibody type 1 (ANNA-1),
IL-1R/TLR IL-1 receptor/toll-like receptor
PAMP pathogen-associated molecular patterns
DAMPs damage-associated molecular patterns
COX2 cyclooxygenase-2
TGF-β/Smad transforming growth factor-β/small mothers against decapentaplegic
HMGB1 high-mobility group box-1 (HMGB1)
SUDEP sudden death in wpilepsy
SCN1A sodium voltage-gated channel alpha subunit 1
GABA 4-aminobutanoic acid
CT computed tomography
SPECT single-photon emission computed tomography
SIADH syndrome of inappropriate secretion of antidiuretic hormone
CBZ carbamazepine
CRMP2 collapsing response mediator protein 2
SV2A synaptic vesicle glycoprotein 2A
AED antiepileptic drugs
RTT Rett syndrome
UBE3A ubiquitin-protein ligase E3A (UBE3A,
ACC agenesis of the corpus callosum
SHANk3 multiple ankyrin repeat domains 3
ARX aristaless-related homeobox
FOXP2 forkhead box P2
SCN1A sodium voltage-gated channel alpha aubunit 1
SCN2A sodium voltage-gated channel alpha subunit 2
SCN8A sodium voltage-gated channel alpha subunit 8
KCNB1 potassium voltage-gated channel subfamily B member 1
CACNA1A calcium voltage-gated channel subunit alpha1 A
SHANK3 SH3 and multiple ankyrin repeat domains 3
CDKL5 cyclin-dependent kinase-like 5
STXBP1 syntaxin binding protein 1
NRXN1 neurexin 1
PCDH19 protocadherin 19
CASK calcium/calmodulin-dependent serine protein kinase
SYNGAP1 synaptic Ras GTPase activating protein 1
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
PACS2 hosphofurin acidic cluster sorting protein 2
ACTL6B actin like 6B
MEF2C myocyte enhancer factor 2C
FOXG1 forkhead box G1
VAP valproic acid
TCAs tricyclic antidepressants (TCAs)
EKG electrocardiogram
KS Klinefelter syndrome
ADEM acute disseminated encephalomyelitis