PIGN encephalopathy: Characterizing the epileptology.
Carolina AlvarezGuillem de Valles-IbáñezManuela PendziwiatAlexej KnausKerstin AltElisa BiaminoAnnette BleySophie CalvertPatrick CarneyAlfonso Caro-LlopisBerten CeulemansJanice CousinSuzanne DavisVincent des PortesPatrick EderyEleina EnglandCarlos FerreiraJeremy FreemanBlanca GenerMagali GorceDelphine HeronMichael S HildebrandAleksandra Jezela-StanekPierre-Simon JoukBoris KerenKatja KlothGerhard KlugerMarius KuhnJohannes R LemkeHong LiFrancisco MartinezCaroline MaxtonHeather C MeffordGiuseppe MerlaHanna MierzewskaAlison MuirSandra MonfortJoost NicolaiJennifer NormanGina O'GradyBarbara OleksyCarmen OrellanaLaura Elena OrecCharlotte PeinhardtEwa PronickaMonica RoselloFernando Santos-SimarroEva Maria Christina SchwaiboldAlexander P A StegmannConstance T StumpelElzbieta SzczepanikIwona TerczyńskaJulien ThevenonAndreas TzschachPatrick Van BogaertRoberta VittoriniSonja WalshSarah WeckhuysenBarbara WeissmanLynne WolfeAlexandre ReymondPasquelena De NittisAnnapurna H PoduriHeather E OlsonPasquale StrianoGaëtan LescaIngrid E SchefferRikke Steensjerre MollerLynette Grant SadleirPublished in: Epilepsia (2022)
PIGN encephalopathy is a complex autosomal recessive disorder associated with a wide spectrum of epilepsy phenotypes, typically with substantial profound to severe developmental impairment.