Phenotype #0000229949

Individual ID	00302871
Associated disease	NBIA
Phenotype details	delayed development prior to onset seizures, sat with support 6–8m, “babbling”, sit-16m; onset seizures 16m tonic seizures; development after onset seizures profound intellectual disability, no speech, non-ambulatory, cannot sit, regression with seizure onset, lost ability to sit, roll over, “babble”, use a fork; myoclonic (onset 18m), focal impaired, awareness seizures (onset 3.5y), absence seizures (onset 4.5y), focal impaired awareness seizures evolving to bilateral tonic-clonic seizures (3y 10m); seizure offset ongoing; EEG occipital slowing and sharp waves evolving to generalized spike-wave in sleep followed by decrements, fast activity in wakefulness, then posterior predominant slow spike and wave, polyspike wave and paroxysmal fast activity in sleep, tonic seizures associated with diffuse fast activity and bilateral paroxysmal fast activity; MRI brain 1y2m-large ventricles especially frontal horns, very thin corpus callosum, decreased white matter volume and delayed myelination, 1y11m-large ventricles especially frontal horns, round hippocampi but no internal architecture, thin corpus callosum, decreased white matter volume and severe myelination delay, large extra axial cerebrospinal fluid spaces; peripheral spasticity, no behavioral features, brachycephaly
Diagnosis/Initial	Lennox-Gastaut syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	NBIA5
Age/Examination	7y (7 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-02 21:08:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

ANK2 (ankyrin 2, neuronal)

Phenotype #0000229949