Pyridoxal dependent epilepsy (Q41204): Difference between revisions

← Older edit

@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1632334328
@@ Property / Canonical URI: https://id.who.int/icd/entity/1632334328 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:8A61.00
@@ Property / CURIE: CID11:8A61.00 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-8A61.00
@@ Property / Canary Token: dki-india-8A61.00 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+G40.0
@@ Property / Linked ICD 10: G40.0 / rank @@
+Normal rank

Latest revision as of 07:16, 13 August 2026

Pyridoxal 5-phosphate dependent epilepsy usually presents with neonatal intractable seizures and is diagnosed by cerebrospinal fluid (CSF) analysis, gene testing, and clinical response. The majority of patients have pyridoxamine 5'-phosphate oxidase (PNPO) gene disease causing mutations. Early diagnosis and effective treatment can lead to a relatively favourable neurodevelopmental outcome.

Language	Label	Description	Also known as
default for all languages	8A61.00
English	Pyridoxal dependent epilepsy	Pyridoxal 5-phosphate dependent epilepsy usually presents with neonatal intractable seizures and is diagnosed by cerebrospinal fluid (CSF) analysis, gene testing, and clinical response. The majority of patients have pyridoxamine 5'-phosphate oxidase (PNPO) gene disease causing mutations. Early diagnosis and effective treatment can lead to a relatively favourable neurodevelopmental outcome.